Scholars@Duke
Rasheed Adebayo Gbadegesin

Rasheed Adebayo Gbadegesin

Wilburt C. Davison Distinguished Professor
Pediatrics, Nephrology
rasheed.gbadegesin@duke.edu
2301 Erwin Rd, Durham, NC 27710
2301 Erwin Rd, Durham, NC 27710

Scholarly Works - Journal articles

Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.

Journal article Nat Rev Nephrol · August 2026 Glomerular diseases are complex conditions, many of which have a genetic basis. However, although some genetic variants can affect glomerular and thereby kidney function, not all identified variants are pathogenic. The process of evaluating genetic and exp ... Full text Link to item Cite

Food Insecurity and Blood Pressure in West Africans with Chronic Kidney Disease

Journal article Clinical Epidemiology and Global Health · July 1, 2026 Background/aims: Food insecurity, limited/uncertain access to adequate food, is a growing concern, especially in low- and middle-income countries, where it may exacerbate chronic kidney disease (CKD). Evidence on the relationship between food insecurity an ... Full text Cite

Update on APOL1 and chronic kidney diseases in children.

Journal article Pediatr Nephrol · June 5, 2026 Chronic kidney disease (CKD) is a major global health burden that disproportionately impacts people of recent African ancestry. The discovery of risk variants in the apolipoprotein L1 (APOL1) gene has transformed the understanding of racial disparities in ... Full text Link to item Cite

Polygenic risk scores and HLA class II variants are biomarkers of corticosteroid response in childhood nephrotic syndrome.

Journal article Kidney Int · June 2026 INTRODUCTION: Nephrotic syndrome (NS), a common glomerular disease in children, is classified based on response to corticosteroid therapy as either steroid-sensitive nephrotic syndrome (SSNS), or steroid-resistant nephrotic syndrome (SRNS). However, there ... Full text Link to item Cite

Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.

Journal article Kidney Int · April 2026 INTRODUCTION: Health system-based biobanks with genetic data provide a unique opportunity for nephrotic syndrome (NS) genomic discovery. This is predicated on finding cases in the electronic health record. METHODS: We tested three strategies to identify fo ... Full text Link to item Cite

Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.

Journal article JAMA Netw Open · March 2, 2026 IMPORTANCE: The APOL1 M1 (p.N264K) variant protects against G2-associated APOL1 focal segmental glomerulosclerosis (FSGS) and chronic kidney disease (CKD). However, the utility of knowing an individual's M1 status in guiding kidney disease diagnosis and ot ... Full text Link to item Cite

National Institutes of Health Workshop to Accelerate Therapeutic Innovation by Optimizing Kidney Precision Medicine Clinical Trials.

Journal article Clin J Am Soc Nephrol · February 17, 2026 The National Institute of Diabetes and Digestive and Kidney Diseases sponsored a scientific workshop in 2024, titled "Preparing for Kidney Precision Medicine Clinical Trials." The purpose of the workshop was to gain a better understanding of the therapeuti ... Full text Link to item Cite

KDOQI US Commentary on the KDIGO 2025 Clinical Practice Guideline for the Management of Nephrotic Syndrome in Children.

Journal article Am J Kidney Dis · February 2026 The Kidney Disease Outcomes Quality Initiative (KDOQI) convened a work group to review the 2025 KDIGO (Kidney Disease: Improving Global Outcomes) Clinical Practice Guideline for the Management of Nephrotic Syndrome in Children. The KDOQI work group reviewe ... Full text Link to item Cite

Beverage patterns, blood pressure, and proteinuria among West Africans with chronic kidney disease: a cross-sectional analysis of the diet, CKD, and apolipoprotein L1 study.

Journal article Front Nutr · 2026 INTRODUCTION: Beverage intake is an important yet understudied contributor to blood pressure (BP) and proteinuria. This is particularly relevant in sub-Saharan Africa, where rapid shifts toward sugar-sweetened beverages (SSBs) and ultra-processed beverages ... Full text Link to item Cite

Genetic Nephrotic Syndrome in Children and Adolescents: An Update.

Journal article Adv Kidney Dis Health · January 2026 Idiopathic nephrotic syndrome is one of the most common glomerular diseases in children and adolescents. Monogenic nephrotic syndrome is associated with lower rates of remission following treatment with standard immunosuppressive therapies and a higher ris ... Full text Link to item Cite

Growth after pediatric and neonatal acute kidney injury: a meta-analysis.

Journal article Pediatr Nephrol · November 2025 BACKGROUND: Acute kidney injury (AKI) occurs commonly in critically ill children. The impact of AKI on pediatric growth outcomes has been sparsely described. OBJECTIVE: To compare growth in children with a history of AKI compared to those without AKI. We h ... Full text Link to item Cite

APOL1 kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Journal article Kidney Int · November 2025 In people of African ancestry, apolipoprotein L1 gene (APOL1) variants have been identified as causing increased risk of progressive chronic kidney disease (CKD). In April of 2024, Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies ... Full text Link to item Cite

Association of Dietary Sodium and Potassium With Blood Pressure and Proteinuria in Africans With Kidney Disease

Journal article Kidney International Reports · October 1, 2025 Introduction: Associations of dietary sodium (Na) and potassium (K) with blood pressure (BP) show conflicting results, with limited data in individuals of African ancestry. We examined cross-sectional associations of 24-hour urine Na (UNa24h) an ... Full text Cite

Defining subgroups of pediatric nephrotic patients with urine proteomics.

Journal article Sci Rep · July 11, 2025 The molecular pathophysiology of nephrotic syndrome remains largely elusive in pediatric patients. While most children with minimal change disease (MCD) show favorable responses to immunosuppressive therapy, those with focal segmental glomerulosclerosis (F ... Full text Link to item Cite

New Index Demonstrates Association between Social Vulnerability, Environmental Burden, and Kidney Failure Risk among Individuals with Glomerular Disease.

Journal article Clin J Am Soc Nephrol · April 1, 2025 KEY POINTS: More tools are needed to explore upstream drivers of racial and ethnic disparities in kidney disease outcomes. The Centers for Disease Control and Prevention Environmental Justice Index is a new tool which characterizes cumulative social and en ... Full text Link to item Cite

Clinical Decision-Making About Immunosuppressive Treatment in Focal Segmental Glomerulosclerosis

Journal article Kidney Medicine · April 1, 2025 Rationale & Objective: Focal segmental glomerulosclerosis (FSGS) is a heterogeneous disorder with a high risk of progression to kidney failure. There are no approved therapies for FSGS, and futility of treatment is poorly defined. The Cure Glomerulonephrop ... Full text Cite

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.

Journal article J Am Soc Nephrol · February 1, 2025 KEY POINTS: We conducted a clinical, genetic, and pathological analysis on 64 cases from 39 families with TRPC6-associated podocytopathy (TRPC6-AP). Analysis of 37,542 individuals excluded a major contribution of loss-of-function variants to TRPC6-AP, legi ... Full text Link to item Cite

Evaluation for genetic disease in kidney transplant candidates: A practice resource.

Journal article Am J Transplant · February 2025 The increasing availability of clinically approved genetic tests for kidney disease has spurred the growth in the use of these tests in kidney transplant practice. Neither the testing options nor the patient population where this should be deployed has bee ... Full text Link to item Cite

APOL1 Bi- and Monoallelic Variants and Chronic Kidney Disease in West Africans.

Journal article N Engl J Med · January 16, 2025 BACKGROUND: Apolipoprotein L1 gene (APOL1) variants are risk factors for chronic kidney disease (CKD) among Black Americans. Data are sparse on the genetic epidemiology of CKD and the clinical association of APOL1 variants with CKD in West Africans, a majo ... Full text Link to item Cite

Editorial Comment.

Journal article J Urol · December 2024 Full text Link to item Cite

Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.

Journal article Am J Kidney Dis · December 2024 About 37 million people in the United States have chronic kidney disease, a disease that encompasses multiple causes. About 10% or more of kidney diseases in adults and as many as 70% of selected chronic kidney diseases in children are expected to be expla ... Full text Link to item Cite

Growth in children with nephrotic syndrome: a post hoc analysis of the NEPTUNE study.

Journal article Pediatr Nephrol · September 2024 BACKGROUND: Steroids, the mainstay of treatment for nephrotic syndrome in children, have multiple adverse effects including growth suppression. METHODS: Anthropometric measurements in children < 18 years enrolled in the Nephrotic Syndrome Study Network (NE ... Full text Link to item Cite

Pediatric contributions and lessons learned from the NEPTUNE cohort study.

Journal article Pediatr Nephrol · September 2024 Primary glomerular diseases are rare entities. This has hampered efforts to better understand the underlying pathobiology and to develop novel safe and effective therapies. NEPTUNE is a rare disease network that is focused on patients of all ages with mini ... Full text Link to item Cite

Association of Preterm Birth with Adverse Glomerular Disease Outcomes in Children and Adults.

Journal article Clin J Am Soc Nephrol · August 1, 2024 KEY POINTS: Preterm birth was a risk factor for adverse outcomes in this heterogeneous cohort of children and adults with glomerular disease. In analyses adjusted for diagnosis and apolipoprotein L1 risk status, there was less remission and faster progress ... Full text Link to item Cite

Longitudinal analysis of blood pressure and lipids in childhood nephrotic syndrome.

Journal article Pediatr Nephrol · July 2024 BACKGROUND: In the current study, longitudinal BP and lipid measurements were examined in a NEPTUNE cohort of children with newly diagnosed nephrotic syndrome (cNEPTUNE). We hypothesized that hypertensive BP and dyslipidemia would persist in children with ... Full text Link to item Cite

A reappraisal of risk factors for hypertension after pediatric acute kidney injury.

Journal article Pediatr Nephrol · May 2024 BACKGROUND: Acute kidney injury (AKI) is common in hospitalized children and increases the risk of chronic kidney disease (CKD) and hypertension, but little is known about the patient level risk factors for pediatric hypertension after AKI. The aims of thi ... Full text Link to item Cite

Population Pharmacokinetics of Caffeine in Neonates with Congenital Heart Disease and Associations with Acute Kidney Injury.

Journal article J Clin Pharmacol · March 2024 Cardiac surgery-associated acute kidney injury (CS-AKI) occurs in approximately 65% of neonates undergoing cardiac surgery on cardiopulmonary bypass and contributes to morbidity and mortality. Caffeine may reduce CS-AKI by counteracting adenosine receptor ... Full text Open Access Link to item Cite

Rationale and design of the Nephrotic Syndrome Study Network (NEPTUNE) Match in glomerular diseases: designing the right trial for the right patient, today.

Journal article Kidney Int · February 2024 Glomerular diseases are classified using a descriptive taxonomy that is not reflective of the heterogeneous underlying molecular drivers. This limits not only diagnostic and therapeutic patient management, but also impacts clinical trials evaluating target ... Full text Open Access Link to item Cite

National Pediatrician-Scientist Collaborative Workgroup comment on new ACGME requirements' impact on pediatric physician-scientists.

Journal article Pediatr Res · January 2024 BACKGROUND: The ACGME recently released its recommendation for updates to the program requirements for pediatrics. These updates proposed changes to allocation of resident clinical time and a greater emphasis on individualization. The potential impact of t ... Full text Link to item Cite

Association of COVID-19 Versus COVID-19 Vaccination With Kidney Function and Disease Activity in Primary Glomerular Disease: A Report of the Cure Glomerulonephropathy Study.

Journal article Am J Kidney Dis · January 2024 RATIONALE & OBJECTIVE: Patients with glomerular disease (GN) may be at increased risk of severe COVID-19, yet concerns over vaccines causing disease relapse may lead to vaccine hesitancy. We examined the associations of COVID-19 with longitudinal kidney fu ... Full text Link to item Cite

Supporting students from underrepresented minority backgrounds in graduate school: A mixed-methods formative study to inform post-baccalaureate design.

Journal article J Clin Transl Sci · 2024 The US biomedical research workforce suffers from systemic barriers causing insufficient diversity and perpetuating inequity. To inform programming enhancing graduate program access, we implemented a formative mixed-method study to identify needed supports ... Full text Link to item Cite

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.

Journal article Nat Commun · November 30, 2023 African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this disparity. While ... Full text Link to item Cite

Patient level factors increase risk of acute kidney disease in hospitalized children with acute kidney injury.

Journal article Pediatr Nephrol · October 2023 BACKGROUND: Studies in adults have shown that persistent kidney dysfunction ≥7-90 days following acute kidney injury (AKI), termed acute kidney disease (AKD), increases chronic kidney disease (CKD) and mortality risk. Little is known about the factors asso ... Full text Link to item Cite

The association of low birthweight and prematurity on outcomes in children and adults with nephrotic syndrome-a NEPTUNE cohort study.

Journal article Pediatr Nephrol · October 2023 BACKGROUND: In single-center studies, both preterm birth and low birth weight (LBW) are associated with worse outcomes in childhood nephrotic syndrome. Using the Nephrotic Syndrome Study Network (NEPTUNE) observational cohort, we tested the hypothesis that ... Full text Link to item Cite

Inaxaplin for the treatment of APOL1-associated kidney disease.

Journal article Nat Rev Nephrol · August 2023 Chronic kidney disease (CKD) is highly prevalent World-Wide and it is an important cause of morbidity and mortality. In 2010, variants in apolipoprotein type 1 (APOL1) gene was identified as a major risk factor for higher prevalence of CKD in individuals o ... Full text Link to item Cite

Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.

Journal article Kidney Int Rep · August 2023 INTRODUCTION: Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of kidney disease in children worldwide. Genome-wide association studies (GWAS) have demonstrated the association of SSNS with genetic variation at HLA-DQ/DR and have identif ... Full text Link to item Cite

Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.

Journal article Pediatr Nephrol · July 2023 Steroid-resistant nephrotic syndrome (SRNS) is the most severe form of childhood nephrotic syndrome with an increased risk of progression to chronic kidney disease stage 5. Research endeavors to date have identified more than 80 genes that are associated w ... Full text Link to item Cite

Age of Onset and Disease Course in Biopsy-Proven Minimal Change Disease: An Analysis From the Cure Glomerulonephropathy Network.

Journal article Am J Kidney Dis · June 2023 RATIONALE & OBJECTIVE: Adolescent- and adult-onset minimal change disease (MCD) may have a clinical course distinct from childhood-onset disease. We characterized the course of children and adults with MCD in the Cure Glomerulonephropathy Network (CureGN) ... Full text Link to item Cite

Cytokine storm-based mechanisms for extrapulmonary manifestations of SARS-CoV-2 infection.

Journal article JCI Insight · May 22, 2023 Viral illnesses like SARS-CoV-2 have pathologic effects on nonrespiratory organs in the absence of direct viral infection. We injected mice with cocktails of rodent equivalents of human cytokine storms resulting from SARS-CoV-2/COVID-19 or rhinovirus commo ... Full text Link to item Cite

The case for treatment of monogenic SRNS with calcineurin inhibitors.

Journal article Kidney Int · May 2023 Currently, no evidence-based guidelines exist for treatment of children with monogenic steroid-resistant nephrotic syndrome. A retrospective study on 141 patients from Malakasioti et al. revealed that 27.6% responded to calcineurin inhibitor (CNI) treatmen ... Full text Link to item Cite

Association of Urine Biomarkers With Acute Kidney Injury and Fluid Overload in Infants After Cardiac Surgery: A Single Center Ancillary Cohort of the Steroids to Reduce Systemic Inflammation After Infant Heart Surgery Trial.

Journal article Crit Care Explor · May 2023 UNLABELLED: To examine the association between three perioperative urine biomarker concentrations (urine cystatin C [uCysC], urine neutrophil gelatinase-associated lipocalin [uNGAL], and urine kidney injury molecule 1 [uKIM-1]), and cardiac surgery-associa ... Full text Link to item Cite

Rationale and Design of the Diet, CKD, and Apolipoprotein L1 Study in Low-Income and Middle-Income Countries

Journal article Kidney International Reports · April 1, 2023 Introduction: Diet, chronic kidney disease (CKD), and Apolipoprotein L1 (APOL1) (DCA) Study is examining the role of dietary factors in CKD progression and APOL1 nephropathy. We describe enrollment and retention efforts and highlight facilitators and barri ... Full text Cite

Racial and Ethnic Disparities in Acute Care Utilization Among Patients With Glomerular Disease.

Journal article Am J Kidney Dis · March 2023 RATIONALE & OBJECTIVE: The effects of race, ethnicity, socioeconomic status (SES), and disease severity on acute care utilization in patients with glomerular disease are unknown. STUDY DESIGN: Prospective cohort study. SETTING & PARTICIPANTS: 1,456 adults ... Full text Link to item Cite

Rapid Progression of Focal Segmental Glomerulosclerosis in Patients with High-Risk APOL1 Genotypes.

Journal article Clin J Am Soc Nephrol · March 1, 2023 BACKGROUND: FSGS is a heterogeneous diagnosis with a guarded prognosis. Polymorphisms in the apolipoprotein L1 ( APOL1 ) gene are associated with developing FSGS and faster progression to kidney failure in affected patients. Better understanding the natura ... Full text Link to item Cite

Cardiovascular Risk Factor Burden and Association With CKD in Ghana and Nigeria

Journal article Kidney International Reports · March 1, 2023 Introduction: Cardiovascular disease is the leading cause of morbidity and mortality in patients with chronic kidney disease (CKD); however, the burden of cardiovascular risk factors in patients with CKD in Africa is not well characterized. We determined t ... Full text Cite

A randomized controlled trial of preemptive rituximab to prevent recurrent focal segmental glomerulosclerosis post-kidney transplant (PRI-VENT FSGS): protocol and study design.

Journal article Front Nephrol · 2023 BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a common cause of end-stage kidney disease requiring kidney transplantation and can recur in the allograft in 30-80% of recipients resulting in reduced graft survival. Plasmapheresis has shown effica ... Full text Link to item Cite

Genetic risk variants for childhood nephrotic syndrome and corticosteroid response.

Journal article Front Pediatr · 2023 INTRODUCTION: The etiology of most cases of nephrotic syndrome (NS) remains unknown, therefore patients are phenotypically categorized based on response to corticosteroid therapy as steroid sensitive NS (SSNS), or steroid resistant NS (SRNS). Genetic risk ... Full text Link to item Cite

Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Investigators.

Journal article Glomerular Dis · 2023 INTRODUCTION: There is an increasing need to return genetic testing results to patients with kidney disease who were first genotyped on a research basis. Operationalizing this process in nephrology clinics is challenged by a limited number of genetic provi ... Full text Link to item Cite

Cure Glomerulonephropathy Pathology Classification and Core Scoring Criteria, Reproducibility, and Clinicopathologic Correlations.

Journal article Glomerular Dis · 2023 INTRODUCTION: Cure Glomerulonephropathy (CureGN) is an observational cohort study of patients with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), membranous nephropathy (MN), or IgA nephropathy. We developed a conventional, consen ... Full text Link to item Cite

Genetics of Chronic Kidney Disease in Low-Resource Settings.

Journal article Semin Nephrol · September 2022 Advances in kidney genomics in the past 20 years has opened the door for more precise diagnosis of kidney disease and identification of new and specific therapeutic agents. Despite these advances, an imbalance exists between low-resource and affluent regio ... Full text Link to item Cite

Comparing Kidney Health Outcomes in Children, Adolescents, and Adults With Focal Segmental Glomerulosclerosis.

Journal article JAMA Netw Open · August 1, 2022 IMPORTANCE: Focal segmental glomerulosclerosis (FSGS) is a common cause of end-stage kidney disease (ESKD) across the lifespan. While 10% to 15% of children and 3% of adults who develop ESKD have FSGS, it remains uncertain whether the natural history diffe ... Full text Link to item Cite

Association of lipid profile biomarkers with breast cancer by molecular subtype: analysis of the MEND study.

Journal article Sci Rep · June 23, 2022 There is conflicting evidence on the role of lipid biomarkers in breast cancer (BC), and no study to our knowledge has examined this association among African women. We estimated odds ratios (ORs) and 95% confidence intervals (95% CI) for the association o ... Full text Link to item Cite

Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis.

Journal article JCI Insight · January 25, 2022 We performed next-generation sequencing in patients with familial steroid-sensitive nephrotic syndrome (SSNS) and identified a homozygous segregating variant (p.H310Y) in the gene encoding clavesin-1 (CLVS1) in a consanguineous family with 3 affected indiv ... Full text Link to item Cite

Case Report: Unusual Aggregation of Different Glomerulopathies in a Family Resolved by Genetic Testing and Reverse Phenotyping.

Journal article Front Pediatr · 2022 Glomerular diseases (GDs) are a major cause of chronic kidney disease in children. The conventional approach to diagnosis of GDs includes clinical evaluation and, in most cases, kidney biopsy to make a definitive diagnosis. However, in many cases, clinical ... Full text Link to item Cite

Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations.

Journal article Front Pediatr · 2022 BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a major cause of end stage kidney disease, with the collapsing form having the worst prognosis. Study of families with hereditary FSGS has provided insight into disease mechanisms. METHODS: In this r ... Full text Link to item Cite

Update on prognosis driven classification of pediatric AKI.

Journal article Front Pediatr · 2022 Acute kidney injury (AKI) affects a large proportion of hospitalized children and increases morbidity and mortality in this population. Initially thought to be a self-limiting condition with uniformly good prognosis, we now know that AKI can persist and pr ... Full text Link to item Cite

Evolutionary genetics and acclimatization in nephrology.

Journal article Nat Rev Nephrol · December 2021 Evolutionary processes, including mutation, migration and natural selection, have influenced the prevalence and distribution of various disorders in humans. However, despite a few well-known examples, such as the APOL1 variants - which have undergone posit ... Full text Link to item Cite

Trends in the epidemiology of childhood nephrotic syndrome in Africa: A systematic review

Journal article Global Epidemiology · November 1, 2021 Background: Childhood nephrotic syndrome, if left untreated, leads to progressive kidney disease or death. We quantified the prevalence of steroid-sensitive nephrotic syndrome, steroid-resistant nephrotic syndrome, and histological types as the epidemiolog ... Full text Cite

HLA Loci and Recurrence of Focal Segmental Glomerulosclerosis in Pediatric Kidney Transplantation.

Journal article Transplant Direct · October 2021 UNLABELLED: Recurrent focal segmental glomerulosclerosis (FSGS) after kidney transplantation accounts for the majority of allograft failures in children with primary FSGS. Although current research focuses on FSGS pathophysiology, a common etiology and mec ... Full text Open Access Link to item Cite

Association of body composition with odds of breast cancer by molecular subtype: analysis of the Mechanisms for Established and Novel Risk Factors for Breast Cancer in Nigerian Women (MEND) study.

Journal article BMC Cancer · September 25, 2021 BACKGROUND: The association between obesity and breast cancer (BC) has been extensively studied among US, European and Asian study populations, with often conflicting evidence. However, despite the increasing prevalence of obesity and associated conditions ... Full text Link to item Cite

Racial-ethnic differences in health-related quality of life among adults and children with glomerular disease.

Journal article Glomerular Dis · August 2021 INTRODUCTION: Disparities in health-related quality of life (HRQOL) have been inadequately studied in patients with glomerular disease. The aim of this study was to identify relationships between race/ethnicity, socioeconomic status, disease severity, and ... Full text Open Access Link to item Cite

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.

Journal article J Am Soc Nephrol · July 2021 BACKGROUND: Podocyte dysfunction is the main pathologic mechanism driving the development of FSGS and other morphologic types of steroid-resistant nephrotic syndrome (SRNS). Despite significant progress, the genetic causes of most cases of SRNS have yet to ... Full text Link to item Cite

Diagnosis, Education, and Care of Patients with APOL1-Associated Nephropathy: A Delphi Consensus and Systematic Review.

Journal article J Am Soc Nephrol · July 2021 BACKGROUND: APOL1 variants contribute to the markedly higher incidence of ESKD in Blacks compared with Whites. Genetic testing for these variants in patients with African ancestry who have nephropathy is uncommon, and no specific treatment or management pr ... Full text Link to item Cite

Diversifying the Research Workforce as a Programmatic Priority for a Career Development Award Program at Duke University.

Journal article Acad Med · June 1, 2021 The National Institutes of Health (NIH) has prioritized efforts to increase diversity in the biomedical research workforce. NIH-funded institutional career development awards may serve as one mechanism to facilitate these efforts. In 2013, the Duke Univers ... Full text Link to item Cite

Steroid Regimen for Children with Nephrotic Syndrome Relapse.

Journal article Clin J Am Soc Nephrol · February 8, 2021 Full text Link to item Cite

Case Report: Novel Dietary Supplementation Associated With Kidney Recovery and Reduction in Proteinuria in a Dialysis Dependent Patient Secondary to Steroid Resistant Minimal Change Disease.

Journal article Front Pediatr · 2021 Minimal change disease (MCD) is the most common cause of nephrotic syndrome worldwide. For decades, the foundation of the treatment has been corticosteroids. However, relapse rate is high and up to 40% of patients develop frequent relapsing/steroid depende ... Full text Link to item Cite

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.

Journal article Kidney Int · November 2020 To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations in the HLA-DR/DQ region, com ... Full text Link to item Cite

Longitudinal Changes in Health-Related Quality of Life in Primary Glomerular Disease: Results From the CureGN Study.

Journal article Kidney Int Rep · October 2020 INTRODUCTION: Prior cross-sectional studies suggest that health-related quality of life (HRQOL) worsens with more severe glomerular disease. This longitudinal analysis was conducted to assess changes in HRQOL with changing disease status. METHODS: Cure Glo ... Full text Link to item Cite

Persistent Disease Activity in Patients With Long-Standing Glomerular Disease

Journal article Kidney International Reports · June 1, 2020 Introduction: Glomerular diseases are characterized by variable disease activity over many years. We aimed to analyze the relationship between clinical disease activity and duration of glomerular disease. Methods: Disease activity in adults with chronic mi ... Full text Cite

Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants.

Journal article Can Urol Assoc J · April 2020 INTRODUCTION: To consider alternative mechanisms that give rise to a refluxing ureterovesical junction (UVJ), we hypothesized that children with a common heritable urinary tract defect, vesicoureteric reflux (VUR), may have a defect in the extracellular ma ... Full text Link to item Cite

Tailored use of belatacept in adolescent kidney transplantation.

Journal article Am J Transplant · March 2020 Adolescent transplant recipients are at risk for nonadherence, development of de novo donor-specific antibody (dnDSA), and allograft loss. Belatacept, a selective T cell costimulatory blocker, is associated with reduced dnDSA, improved renal function, and ... Full text Link to item Cite

APOL1 Long-term Kidney Transplantation Outcomes Network (APOLLO): Design and Rationale.

Journal article Kidney Int Rep · March 2020 INTRODUCTION: Much of the higher risk for end-stage kidney disease (ESKD) in African American individuals relates to ancestry-specific variation in the apolipoprotein L1 gene (APOL1). Relative to kidneys from European American deceased-donors, kidneys from ... Full text Link to item Cite

Changing epidemiology of nephrotic syndrome in Nigerian children: A cross-sectional study.

Journal article PLoS One · 2020 BACKGROUND: Recent reports from small studies in West Africa suggest that Black children may have high rate of steroid sensitivity nephrotic syndrome (SSNS) contrary to long held knowledge. Herein, we determined the proportion of children with idiopathic n ... Full text Link to item Cite

Treatment of steroid-resistant nephrotic syndrome in the genomic era.

Journal article Pediatr Nephrol · November 2019 The pathogenesis of steroid-resistant nephrotic syndrome (SRNS) is not completely known. Recent advances in genomics have elucidated some of the molecular mechanisms and pathophysiology of the disease. More than 50 monogenic causes of SRNS have been identi ... Full text Link to item Cite

Aberrant IgM on T cells: biomarker or pathogenic factor in childhood nephrotic syndrome?

Journal article Kidney Int · October 2019 Although the pathogenesis of steroid-sensitive nephrotic syndrome (SSNS) remains elusive, multiple epidemiologic, clinical, and experimental studies converge on the common theme of immune dysregulation. Initially, T-cell adaptive immunity was solely emphas ... Full text Link to item Cite

Kidney biopsy findings in children with sickle cell disease: a Midwest Pediatric Nephrology Consortium study.

Journal article Pediatr Nephrol · August 2019 BACKGROUND: Renal damage is a progressive complication of sickle cell disease (SCD). Microalbuminuria is common in children with SCD, while a smaller number of children have more severe renal manifestations necessitating kidney biopsy. There is limited inf ... Full text Link to item Cite

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Journal article J Am Soc Nephrol · August 2019 BACKGROUND: Steroid-sensitive nephrotic syndrome (SSNS), the most common form of nephrotic syndrome in childhood, is considered an autoimmune disease with an established classic HLA association. However, the precise etiology of the disease is unclear. In o ... Full text Link to item Cite

Cultivating Research Skills During Clinical Training to Promote Pediatric-Scientist Development.

Journal article Pediatrics · August 2019 Physician-scientists represent a critical component of the biomedical and health research workforce. However, the proportion of physicians who spend a significant amount of effort on scientific research has declined over the past 40 years. This trend has b ... Full text Open Access Link to item Cite

Health-related quality of life in glomerular disease.

Journal article Kidney Int · May 2019 There is scant literature describing the effect of glomerular disease on health-related quality of life (HRQOL). The Cure Glomerulonephropathy study (CureGN) is an international longitudinal cohort study of children and adults with four primary glomerular ... Full text Link to item Cite

Using PROMIS® to create clinically meaningful profiles of nephrotic syndrome patients.

Journal article Health Psychol · May 2019 OBJECTIVE: Nephrotic syndrome (NS) is a kidney disease known to adversely impact health-related quality of life (HRQOL). Patient-reported outcome (PRO) measures are commonly used to characterize HRQOL and the patient disease experience. This study aims to ... Full text Link to item Cite

Correction to: Recurrence of nephrotic syndrome following kidney transplantation is associated with initial native kidney biopsy findings : A Midwest Pediatric Nephrology Consortium (MWPNC) study.

Journal article Pediatr Nephrol · March 2019 The original version of this article unfortunately contained a mistake. The subtitle "A Midwest Pediatric Nephrology Consortium (MWPNC) study" was missing. The correct title including subtitle is given above. ... Full text Link to item Cite

Association of infections and venous thromboembolism in hospitalized children with nephrotic syndrome.

Journal article Pediatr Nephrol · February 2019 BACKGROUND: Nephrotic syndrome (NS) results in hypercoagulability and increased risk of infection. Furthermore, infection increases the risk of venous thromboembolism (VTE). Our objective was to determine the prevalence of infection, VTE, and the associate ... Full text Link to item Cite

CureGN Study Rationale, Design, and Methods: Establishing a Large Prospective Observational Study of Glomerular Disease.

Journal article Am J Kidney Dis · February 2019 RATIONALE & OBJECTIVES: Glomerular diseases, including minimal change disease, focal segmental glomerulosclerosis, membranous nephropathy, and immunoglobulin A (IgA) nephropathy, share clinical presentations, yet result from multiple biological mechanisms. ... Full text Link to item Cite

Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update.

Journal article Front Pediatr · 2019 Advances in genome science in the last 20 years have led to the discovery of over 50 single gene causes and genetic risk loci for steroid resistant nephrotic syndrome (SRNS). Despite these advances, the genetic architecture of childhood steroid sensitive n ... Full text Open Access Link to item Cite

Psychosocial Assessment of Candidates for Transplantation (PACT) Score Identifies High Risk Patients in Pediatric Renal Transplantation.

Journal article Front Pediatr · 2019 Background: Currently, there is no standardized approach for determining psychosocial readiness in pediatric transplantation. We examined the utility of the Psychosocial Assessment of Candidates for Transplantation (PACT) to identify pediatric kidney trans ... Full text Open Access Link to item Cite

Adrenocorticotropic Hormone for Childhood Nephrotic Syndrome: The ATLANTIS Randomized Trial.

Journal article Clin J Am Soc Nephrol · December 7, 2018 BACKGROUND AND OBJECTIVES: There is renewed interest in adrenocorticotropic hormone (ACTH) for the treatment of nephrotic syndrome. We evaluated the efficacy and safety of ACTH in children with frequently relapsing or steroid-dependent nephrotic syndrome i ... Full text Link to item Cite

National survey found that managing childhood nephrotic syndrome in Nigeria varied widely and did not comply with the best evidence.

Journal article Acta Paediatr · December 2018 AIM: This study explored any variations in managing childhood nephrotic syndrome between specialist centres in Nigeria and how closely the care reflected the best available evidence. METHODS: In 2016, the heads of Nigerian paediatric nephrology units were ... Full text Link to item Cite

Genetic Basis of Health Disparity in Childhood Nephrotic Syndrome.

Journal article Am J Kidney Dis · November 2018 Nephrotic syndrome is the most common glomerular disease in children. There is wide variation in the incidence of nephrotic syndrome in different populations, with a higher incidence in children of South Asian descent. However, nephrotic syndrome with a mo ... Full text Link to item Cite

Clinical Characteristics and Treatment Patterns of Children and Adults With IgA Nephropathy or IgA Vasculitis: Findings From the CureGN Study.

Journal article Kidney Int Rep · November 2018 INTRODUCTION: The Cure Glomerulonephropathy Network (CureGN) is a 66-center longitudinal observational study of patients with biopsy-confirmed minimal change disease, focal segmental glomerulosclerosis, membranous nephropathy, or IgA nephropathy (IgAN), in ... Full text Link to item Cite

Recurrence of nephrotic syndrome following kidney transplantation is associated with initial native kidney biopsy findings.

Journal article Pediatr Nephrol · October 2018 BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome (SRNS) due to focal segmental glomerulosclerosis (FSGS) and minimal change disease (MCD) is a leading cause of end-stage kidney disease in children. Recurrence of primary disease following tra ... Full text Link to item Cite

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.

Journal article J Am Soc Nephrol · August 2018 BACKGROUND: We previously reported that mutations in the anillin (ANLN) gene cause familial forms of FSGS. ANLN is an F-actin binding protein that modulates podocyte cell motility and interacts with the phosphoinositide 3-kinase (PI3K) pathway through the ... Full text Link to item Cite

HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome.

Journal article Am J Kidney Dis · March 2018 BACKGROUND: Few data exist for the genetic variants underlying the risk for steroid-sensitive nephrotic syndrome (SSNS) in children. The objectives of this study were to evaluate HLA-DQA1 and APOL1 variants as risk factors for SSNS in African American chil ... Full text Link to item Cite

Enuresis in children and adolescents with sickle cell anaemia is more frequent and substantially different from the general population.

Journal article PLoS One · 2018 BACKGROUND: No large studies have examined the prevalence of enuresis, its various forms and risk factors in children with sickle cell anaemia (SCA) in Sub-Saharan Africa using standardised definitions. We determined age and gender-specific prevalence of e ... Full text Link to item Cite

Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population.

Journal article Front Pediatr · 2018 Background: Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage kidney disease in children and young adults. Despite advances in genomic science that have led to the discovery of >50 monogenic causes of SRNS, there are no clear guid ... Full text Link to item Cite

Renal Tubular Acidosis.

Journal article Pediatr Rev · November 2017 Full text Link to item Cite

Genetics of childhood steroid-sensitive nephrotic syndrome.

Journal article Pediatr Nephrol · September 2017 The pathogenesis of childhood-onset nephrotic syndrome (NS), disparity in incidence of NS among races, and variable responses to therapies in children with NS have defied explanation to date. In the last 20 years over 50 genetic causes of steroid-resistant ... Full text Open Access Link to item Cite

Neutropenic enterocolitis (typhlitis) in a pediatric renal transplant patient. A case report and review of the literature.

Journal article Pediatr Transplant · September 2017 NE (typhlitis) is a potentially life-threatening disease process characterized by bowel wall edema, ulceration, and hemorrhage in an immunosuppressed patient. We report a 15-year-old boy status post deceased donor renal transplantation who presented with f ... Full text Link to item Cite

Responsiveness of the PROMIS® measures to changes in disease status among pediatric nephrotic syndrome patients: a Midwest pediatric nephrology consortium study.

Journal article Health Qual Life Outcomes · August 23, 2017 BACKGROUND: Nephrotic syndrome represents a condition in pediatric nephrology typified by a relapsing and remitting course, proteinuria and the presence of edema. The PROMIS measures have previously been studied and validated in cross-sectional studies of ... Full text Open Access Link to item Cite

Vesicoureteral reflux and the extracellular matrix connection.

Journal article Pediatr Nephrol · April 2017 Primary vesicoureteral reflux (VUR) is a common pediatric condition due to a developmental defect in the ureterovesical junction. The prevalence of VUR among individuals with connective tissue disorders, as well as the importance of the ureter and bladder ... Full text Open Access Link to item Cite

Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.

Journal article Sci Rep · January 6, 2017 Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was repo ... Full text Link to item Cite

The Genetics of Nephrotic Syndrome.

Journal article J Pediatr Genet · March 2016 Nephrotic syndrome (NS) is a common pediatric kidney disease and is defined as massive proteinuria, hypoalbuminemia, and edema. Dysfunction of the glomerular filtration barrier, which is made up of endothelial cells, glomerular basement membrane, and visce ... Full text Link to item Cite

Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.

Journal article Pediatr Nephrol · February 2016 BACKGROUND: Primary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract, and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in the tenascin XB gene (TNXB) ... Full text Link to item Cite

AKI in Children Hospitalized with Nephrotic Syndrome.

Journal article Clin J Am Soc Nephrol · December 7, 2015 BACKGROUND AND OBJECTIVES: Children with nephrotic syndrome can develop life-threatening complications, including infection and thrombosis. While AKI is associated with adverse outcomes in hospitalized children, little is known about the epidemiology of AK ... Full text Link to item Cite

Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.

Journal article Clin Kidney J · October 2015 BACKGROUND: Mutations in podocin (NPHS2) are the most common cause of childhood onset autosomal recessive steroid-resistant nephrotic syndrome (SRNS). The disease is characterized by early-onset proteinuria, resistance to immunosuppressive therapy and rapi ... Full text Open Access Link to item Cite

The impact of disease duration on quality of life in children with nephrotic syndrome: a Midwest Pediatric Nephrology Consortium study.

Journal article Pediatr Nephrol · September 2015 BACKGROUND: The Patient Reported Outcomes Measurement Information System (PROMIS) II is a prospective study that evaluates patient reported outcomes in pediatric chronic diseases as a measure of health-related quality of life (HRQOL). We have evaluated the ... Full text Link to item Cite

Identification of cis-suppression of human disease mutations by comparative genomics.

Journal article Nature · August 13, 2015 Patterns of amino acid conservation have served as a tool for understanding protein evolution. The same principles have also found broad application in human genomics, driven by the need to interpret the pathogenic potential of variants in patients. Here w ... Full text Open Access Link to item Cite

HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome.

Journal article J Am Soc Nephrol · July 2015 Steroid-sensitive nephrotic syndrome (SSNS) accounts for >80% of cases of nephrotic syndrome in childhood. However, the etiology and pathogenesis of SSNS remain obscure. Hypothesizing that coding variation may underlie SSNS risk, we conducted an exome arra ... Full text Link to item Cite

Translating genetic findings in hereditary nephrotic syndrome: the missing loops.

Journal article Am J Physiol Renal Physiol · July 1, 2015 Nephrotic syndrome (NS) is a clinicopathological entity characterized by proteinuria, hypoalbuminemia, peripheral edema, and hyperlipidemia. It is the most common cause of glomerular disease in children and adults. Although the molecular pathogenesis of NS ... Full text Link to item Cite

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Journal article J Am Soc Nephrol · June 2015 Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, ... Full text Link to item Cite

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.

Journal article J Am Soc Nephrol · April 2015 FSGS is a clinical disorder characterized by focal scarring of the glomerular capillary tuft, podocyte injury, and nephrotic syndrome. Although idiopathic forms of FSGS predominate, recent insights into the molecular and genetic causes of FSGS have enhance ... Full text Link to item Cite

The author replies.

Journal article Kidney Int · April 2015 Full text Link to item Cite

Efficacy of antibiotic prophylaxis in children with vesicoureteral reflux: systematic review and meta-analysis.

Journal article J Urol · March 2015 PURPOSE: Controversy exists regarding the use of continuous antibiotic prophylaxis vs observation in the management of children with vesicoureteral reflux. The reported effectiveness of continuous antibiotic prophylaxis in children with reflux varies widel ... Full text Link to item Cite

Gaining the Patient Reported Outcomes Measurement Information System (PROMIS) perspective in chronic kidney disease: a Midwest Pediatric Nephrology Consortium study.

Journal article Pediatr Nephrol · December 2014 BACKGROUND AND OBJECTIVES: Chronic kidney disease is a persistent chronic health condition commonly seen in pediatric nephrology programs. Our study aims to evaluate the sensitivity of the Patient Reported Outcomes Measurement Information System (PROMIS) p ... Full text Link to item Cite

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.

Journal article Kidney Int · December 2014 Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause ... Full text Open Access Link to item Cite

Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.

Journal article J Am Soc Nephrol · September 2014 FSGS is characterized by segmental scarring of the glomerulus and is a leading cause of kidney failure. Identification of genes causing FSGS has improved our understanding of disease mechanisms and points to defects in the glomerular epithelial cell, the p ... Full text Link to item Cite

Phosphodiesterase 5 inhibition ameliorates angiontensin II-induced podocyte dysmotility via the protein kinase G-mediated downregulation of TRPC6 activity.

Journal article Am J Physiol Renal Physiol · June 15, 2014 The emerging role of the transient receptor potential cation channel isotype 6 (TRPC6) as a central contributor to various pathological processes affecting podocytes has generated interest in the development of therapeutics to modulate its function. Recent ... Full text Link to item Cite

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Journal article Kidney International · January 1, 2014 Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause ... Full text Cite

Treatment outcome of late steroid-resistant nephrotic syndrome: a study by the Midwest Pediatric Nephrology Consortium.

Journal article Pediatr Nephrol · August 2013 BACKGROUND: Idiopathic nephrotic syndrome (NS) in children is classified as steroid sensitive or steroid resistant. Steroid sensitivity typically portends a low risk of permanent renal failure. However, some initially steroid-sensitive patients later devel ... Full text Link to item Cite

TNXB mutations can cause vesicoureteral reflux.

Journal article J Am Soc Nephrol · July 2013 Primary vesicoureteral reflux (VUR) is the most common congenital anomaly of the kidney and the urinary tract, and it is a major risk factor for pyelonephritic scarring and CKD in children. Although twin studies support the heritability of VUR, specific ge ... Full text Link to item Cite

Gaining the PROMIS perspective from children with nephrotic syndrome: a Midwest pediatric nephrology consortium study.

Journal article Health Qual Life Outcomes · March 4, 2013 BACKGROUND AND OBJECTIVES: Nephrotic syndrome (NS) represents a common disease in pediatric nephrology typified by a relapsing and remitting course and characterized by the presence of edema that can significantly affect the health-related quality of life ... Full text Link to item Cite

Genetic testing in nephrotic syndrome--challenges and opportunities.

Journal article Nat Rev Nephrol · March 2013 Monogenic nephrotic syndrome (nephrotic syndrome caused by a single gene defect) is responsible for only a small percentage of cases of nephrotic syndrome, but information from studies of the unique cohort of patients with this form of the disease has dram ... Full text Link to item Cite

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

Journal article Kidney Int · January 2012 Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autoso ... Full text Link to item Cite

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis.

Journal article J Clin Invest · October 2011 The specialized epithelial cell of the kidney, the podocyte, has a complex actin-based cytoskeleton. Dynamic regulation of this cytoskeleton is required for efficient barrier function of the kidney. Podocytes are a useful cell type to study the control of ... Full text Link to item Cite

Pathogenesis and therapy of focal segmental glomerulosclerosis: an update.

Journal article Pediatr Nephrol · July 2011 Focal and segmental glomerulosclerosis (FSGS) is an important cause of steroid-resistant nephrotic syndrome in adults and children. It is responsible for 5-20% of all cases of end-stage kidney disease (ESKD) in the United States. The pathogenesis of FSGS h ... Full text Link to item Cite

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Journal article J Clin Invest · May 2011 Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and ... Full text Link to item Cite

TRPC6 enhances angiotensin II-induced albuminuria.

Journal article J Am Soc Nephrol · March 2011 Mutations in the canonical transient receptor potential cation channel 6 (TRPC6) are responsible for familial forms of adult onset focal segmental glomerulosclerosis (FSGS). The mechanisms by which TRPC6 mutations cause kidney disease are not well understo ... Full text Link to item Cite

A new locus for familial FSGS on chromosome 2p.

Journal article J Am Soc Nephrol · August 2010 FSGS is a clinicopathologic entity characterized by nephrotic syndrome and progression to ESRD. Although the pathogenesis is unknown, the podocyte seems to play a central role in this disorder. Here, we present six kindreds with hereditary FSGS that did no ... Full text Link to item Cite

Significance of hemolysis on extracorporeal life support after cardiac surgery in children.

Journal article Pediatr Nephrol · March 2009 Hemolysis is common during extracorporeal life support (ECLS). Elevated levels of circulating plasma free hemoglobin (FHb) has been linked to the development of hemoglobinuria nephropathy. Its clinical significance in patients receiving ECLS remains unknow ... Full text Link to item Cite

Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.

Journal article Pediatr Nephrol · February 2009 Focal and segmental glomerulosclerosis (FSGS) is the most common glomerular cause of end-stage kidney disease (ESKD). Although the etiology of FSGS has not been fully elucidated, recent results from the positional cloning of genes mutated in nephrotic synd ... Full text Link to item Cite

Nephrotic Syndrome

Journal article · December 1, 2008 Full text Cite

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

Journal article Nephrol Dial Transplant · November 2008 BACKGROUND: Congenital nephrotic syndrome (CNS) is de- fined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of life. CNS of the Finnish-type (CNF) ... Full text Link to item Cite

Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.

Journal article Pediatr Nephrol · September 2008 In African American (AA) children, focal segmental glomerulosclerosis (FSGS) is the leading cause of nephrotic syndrome (NS). It has been shown that AA children suffer from FSGS and steroid-resistant nephrotic syndrome (SRNS) at a higher frequency and with ... Full text Link to item Cite

Therapeutic targets in focal and segmental glomerulosclerosis.

Journal article Curr Opin Nephrol Hypertens · July 2008 PURPOSE OF REVIEW: Focal and segmental glomerulosclerosis occurs due to a defect in the glomerular filtration barrier. This review highlights contributions from the past year that have enhanced our understanding of the pathophysiology of focal and segmenta ... Full text Link to item Cite

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

Journal article Nephrol Dial Transplant · April 2008 BACKGROUND AND OBJECTIVES: Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides syndromic DMS, isolated (non-sy ... Full text Link to item Cite

Complexity of the msp2 locus and the severity of childhood malaria, in south-western Nigeria.

Journal article Ann Trop Med Parasitol · March 2008 As the genetic diversity of Plasmodium falciparum infections in humans is implicated in the pathogenesis of malaria, the association between P. falciparum diversity at the merozoite surface protein-2 (msp2) locus and the severity of childhood malaria was i ... Full text Link to item Cite

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

Journal article J Am Soc Nephrol · February 2008 Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype-phenotype correlation between podocin mutations and age of onset, a worldwide cohort of 430 p ... Full text Link to item Cite

Arterial compliance in adolescents and young adults receiving chronic hemodialysis.

Journal article Ren Fail · 2008 Increased vascular stiffness is an established risk marker of cardiovascular diseases (CVD) in adults with end-stage renal disease, but its role in pediatric patients remains to be defined. We prospectively examined arterial compliances of adolescents and ... Full text Link to item Cite

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

Journal article Pediatrics · April 2007 OBJECTIVES: Mutations in each of the NPHS1, NPHS2, WT1, and LAMB2 genes have been implicated in nephrotic syndrome, manifesting in the first year of life. The relative frequency of causative mutations in these genes in children with nephrotic syndrome mani ... Full text Link to item Cite

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.

Journal article Pediatr Nephrol · April 2007 Idiopathic nephrotic syndrome is a common pediatric kidney disease, 80% of all cases are steroid sensitive (SSNS). A significant proportion of children with SSNS will have a frequently relapsing or steroid-dependent course (FRNS/SDNS) that is associated wi ... Full text Link to item Cite

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

Journal article Nat Genet · December 2006 Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional cloning, we identified mutations in the phospholipase C epsilon gene (PL ... Full text Link to item Cite

Association between ICAM-1 Gly-Arg polymorphism and renal parenchymal scarring following childhood urinary tract infection.

Journal article Int J Immunogenet · February 2006 Renal parenchymal scarring (RPS) following urinary tract infection (UTI) is an important cause of renal morbidity in children. Studies have shown that the intensity of the inflammatory response following infection is related to the risk of RPS. However, ge ... Full text Link to item Cite

Increased steroid responsiveness of young children with nephrotic syndrome in Nigeria.

Journal article Ann Trop Paediatr · September 2005 UNLABELLED: A previous study on the nephrotic syndrome (NS) in our unit showed that the histological patterns associated with steroid resistance were more common in children over 5 years of age. AIM: The aim of the study was to determine the incidence of s ... Full text Link to item Cite

Genetic diversity of the msp-1 locus and symptomatic malaria in south-west Nigeria.

Journal article Acta Trop · September 2005 Genetic characteristics of Plasmodium falciparum may play a role in the clinical severity of malaria infection. We have studied the association between diversity at the merozoite surface protein-1 (msp-1) locus and the severity of disease in childhood mala ... Full text Link to item Cite

Plasmodium falciparum malaria in south-west Nigerian children: is the polymorphism of ICAM-1 and E-selectin genes contributing to the clinical severity of malaria?

Journal article Acta Trop · September 2005 Plasmodium falciparum malaria remains a major public health hazard in sub-Saharan African children. While the factors that determine the variations in clinical outcome of a malaria have not been completely defined, both host and parasite factors, as well a ... Full text Link to item Cite

A review of cases of posterior urethral valves seen at the University College Hospital, Ibadan (Nigeria).

Journal article Pediatr Med Chir · 2004 A cohort of 40 male children with Posterior Urethral Valves (PUV) seen in the Paediatric Nephrology/Urology Unit of the University College Hospital, Ibadan are presented. They were reviewed with the aim of determining the clinical course of the disease in ... Link to item Cite

A PCR-RFLP typing method for adhesion molecule gene polymorphisms and allele frequencies in a normal UK population.

Journal article Eur J Immunogenet · April 2002 We report simple and reproducible PCR-RFLP typing methods for the polymorphisms in the ICAM-1, E-selectin and PECAM-1 genes. The genotype and allele frequencies detected in a normal UK population did not deviate significantly from the Hardy-Weinberg equili ... Full text Link to item Cite

Plasma and urinary soluble adhesion molecule expression is increased during first documented acute pyelonephritis.

Journal article Arch Dis Child · March 2002 BACKGROUND: The degree of inflammatory reaction and leucocyte trafficking during acute pyelonephritis has been related to the risk of developing renal parenchymal scarring. Adhesion molecules play a central role in leucocyte recruitment during inflammation ... Full text Link to item Cite

Role of TGF-beta1 in renal parenchymal scarring following childhood urinary tract infection.

Journal article Kidney Int · January 2002 BACKGROUND: Significant variability exists in the outcome of renal parenchymal inflammation following urinary tract infection (UTI) in childhood as some children experience renal parenchymal scarring (RPS) while others do not scar. Since TGF-beta1 is pro-f ... Full text Link to item Cite

Chloroquine resistance of Plasmodium falciparum is associated with severity of disease in Nigerian children.

Journal article Trans R Soc Trop Med Hyg · 2002 Chloroquine resistance of Plasmodium falciparum in vitro was significantly higher in isolates from patients with severe malaria than those with uncomplicated disease. This association may be due to either progression of uncomplicated to severe disease foll ... Full text Link to item Cite

The Ibadan conjoined twins: a report of omphalopagus twins and a review of cases reported in Nigeria over 60 years.

Journal article Ann Trop Paediatr · September 2001 An omphalopagus set of female conjoined twins, undiagnosed prenatally, who presented as obstructed labour needing operative delivery is reported. Their anatomic characteristics and clinical features, including overwhelming sepsis in twin II which forced ea ... Full text Link to item Cite

Neurological features of cerebral malaria in Nigerian children.

Journal article Ann Trop Paediatr · December 1999 Cerebral malaria is one of the commonest causes of an acute neurological syndrome in malaria-endemic areas. However, there are few detailed reports of findings on clinical neurological examination of the condition. The neurological features of cerebral mal ... Full text Link to item Cite

Comparative efficacy of intramuscular artemether and intravenous quinine in Nigerian children with cerebral malaria.

Journal article Acta Trop · October 15, 1999 The efficacy of a 5-day treatment with intramuscular artemether (3.2-mg/kg loading dose followed by 1.6 mg/kg daily) was compared to that of the standard 7-day treatment with quinine (20-mg/kg loading dose followed by 10 mg/kg every 8 h) in a randomised cl ... Full text Link to item Cite

The predominance of membranoproliferative glomerulonephritis in childhood nephrotic syndrome in Ibadan, Nigeria.

Journal article West Afr J Med · 1999 The histological findings in renal biopsy specimens obtained from 41 children with the nephrotic syndrome in Ibadan, Nigeria, between July, 1989 and June, 1996 are presented. The patients consisted of 26 male and 15 female children and their ages ranged fr ... Link to item Cite

Intraleucocytic malaria pigment and clinical severity of malaria in children.

Journal article Trans R Soc Trop Med Hyg · 1998 Intraleucocytic malaria pigment has been suggested as a measure of disease severity in malaria. We have tested this hypothesis by studying 146 children aged 6 months to 14 years in 4 categories--cerebral malaria, mild malaria, asymptomatic malaria and 'no ... Full text Link to item Cite

Lack of association between falciparum malaria parasitemia and acute diarrhea in Nigerian children.

Journal article Am J Trop Med Hyg · December 1997 It is widely believed that malaria causes diarrhea. Yet, national and international diarrheal diseases control programs are silent about the overlap between these two major public health problems that coexist in most tropical countries. To test the hypothe ... Full text Link to item Cite

Major congenital malformations among neonatal referrals to a Nigerian university hospital.

Journal article East Afr Med J · November 1997 Major congenital malformations are unrecognised as a major cause of neonatal morbidity in many African countries. We have studied the contribution of major congenital malformations to morbidity among neonates referred to the University College Hospital, Ib ... Link to item Cite

Intraleucocyte malaria pigment in asymptomatic and uncomplicated malaria.

Journal article East Afr Med J · November 1997 While malaria pigment or haemozoin is known to be an end product of haemoglobin digestion by the malaria parasite, its clinical significance is just beginning to be elucidated. We have studied the distribution of intraleucocyte malaria pigment in 92 childr ... Link to item Cite

Persistent diarrhoea in Nigerian children aged less than five years: a hospital-based study.

Journal article J Diarrhoeal Dis Res · September 1997 To identify possible risk factors for persistent diarrhoea, 307 children with acute diarrhoea presenting at the University College Hospital, Ibadan, Nigeria over a 10-month period from July 1993 to April 1994 were followed up prospectively until the resolu ... Link to item Cite

Inaccuracy of the Schwartz formula in estimating glomerular filtration rate in Nigerian children.

Journal article Ann Trop Paediatr · June 1997 The accurate estimation of renal function is of vital importance in the management of a child with renal disease. Given the well known difficulties of obtaining an accurately timed 24-hour urine sample from children and lacking the resources for estimating ... Full text Link to item Cite

The clinical manifestations of cerebral malaria among Nigerian children with the sickle cell trait.

Journal article Ann Trop Paediatr · June 1997 In order to describe the interaction between haemoglobin type and the clinical manifestations of cerebral malaria, we studied 60 children aged between 6 and 60 months at University College Hospital, Ibadan, Nigeria. Haemoglobin AS individuals with cerebral ... Full text Link to item Cite

Intraosseous infusion in an emergency situation: a case report.

Journal article Ann Trop Paediatr · June 1997 An 18-month-old boy who had cardiopulmonary arrest secondary to penicillin anaphylaxis was successfully resuscitated by intraosseous administration of emergency resuscitative medications because peripheral vascular access was impossible. He was discharged ... Full text Link to item Cite

Retinal haemorrhage in cerebral malaria.

Journal article East Afr Med J · May 1997 We examined the fundi of 73 children aged between six months and six years with confirmed diagnosis of cerebral malaria at the Children's Emergency Ward of the University College Hospital, Ibadan. Normal fundi, papilloedema and retinal haemorrhages were pr ... Link to item Cite

Body temperature is a poor predictor of malaria parasitaemia in children with acute diarrhoea.

Journal article Ann Trop Paediatr · March 1997 In order to ascertain the usefulness of a temperature > or = 38 degrees C or a history of fever in detecting malaria parasitaemia in children with diarrhoea as recommended by the World Health Organization (WHO), 522 children aged from 6 to 60 months presen ... Full text Link to item Cite

Interaction between acute diarrhoea and falciparum malaria in Nigerian children.

Journal article J Diarrhoeal Dis Res · December 1996 Although both malaria and diarrhoea are major public health problems in developing countries, and separately each has been the subject of intense research, few studies have investigated the interaction between these two conditions. The interaction between ... Link to item Cite

Is the height/plasma creatinine formula of Schwartz useful as a screening test in detecting Nigeria children with low GFR?

Journal article West Afr J Med · 1995 A group of 42 children with renal diseases seen at the University College Hospital Ibadan were studied in order to evaluate the usefulness of the height/plasma creatinine formula of Schwartz et al i.e. GFR ml/min/1.73 m2 = 0.55 x Height (cm)/Plasma creatin ... Link to item Cite

Urinary tract pathogens and antimicrobial sensitivity patterns in children in Ibadan, Nigeria.

Journal article Ann Trop Paediatr · 1994 A study of bacterial organisms isolated from 65 Nigerian children who had urinary tract infection (UTI) is reported. The predominant isolate in both inpatients and outpatients was Klebsiella species which accounted for 52.8% of cases. Escherichia coli, Pse ... Full text Link to item Cite

Outbreak of neonatal Klebsiella septicaemia at the University College Hospital, Ibadan, Nigeria. Appraisal of predisposing factors and preventive measures.

Journal article Trop Geogr Med · 1994 The report concerns an outbreak of neonatal Klebsiella septicaemia at the University College Hospital, Ibadan, Nigeria, between October and November 1991. Mortality, 35.7%, was higher in the preterm babies than in the term babies (p < 0.05). The important ... Link to item Cite

Trends in newborn mortality over a ten year period at the University College Hospital, Ibadan, Nigeria

Journal article Early Child Development and Care · January 1, 1992 Annual mortality amongst 3845 infants cared for on the Special Care Baby Unit of the University College Hospital, Ibadan, Nigeria, over a 10 year period ranged from 16.8% to 36.2%; there was a significant association between mortality and the male sex (p < ... Full text Cite