Genetics of childhood steroid-sensitive nephrotic syndrome.

Journal Article (Journal Article;Review)

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 nephrotic syndrome (SRNS) have been identified, and at least two disease loci for two pathologic variants of SRNS (focal segmental glomerulosclerosis and membranous nephropathy) have been defined. However, the genetic causes and risk loci for steroid-sensitive nephrotic syndrome (SSNS) remain elusive, partly because SSNS is relatively rare and also because cases of SSNS vary widely in phenotypic expression over time. A recent study of a well-defined modest cohort of children with SSNS identified variants in HLA-DQA1 as a risk factor for SSNS. Here we review what is currently known about the genetics of SSNS and also discuss how recent careful phenotypic and genomic studies reinforce the role of adaptive immunity in the molecular mechanisms of SSNS.

Full Text

Duke Authors

Cited Authors

  • Karp, AM; Gbadegesin, RA

Published Date

  • September 2017

Published In

Volume / Issue

  • 32 / 9

Start / End Page

  • 1481 - 1488

PubMed ID

  • 27470160

Pubmed Central ID

  • PMC5276801

Electronic International Standard Serial Number (EISSN)

  • 1432-198X

Digital Object Identifier (DOI)

  • 10.1007/s00467-016-3456-8


  • eng

Conference Location

  • Germany