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COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

Publication ,  Journal Article
Diomedi-Camassei, F; Di Giandomenico, S; Santorelli, FM; Caridi, G; Piemonte, F; Montini, G; Ghiggeri, GM; Murer, L; Barisoni, L; Pastore, A ...
Published in: J Am Soc Nephrol
October 2007

Primary coenzyme Q(10) (CoQ(10)) deficiency includes a group of rare autosomal recessive disorders primarily characterized by neurological and muscular symptoms. Rarely, glomerular involvement has been reported. The COQ2 gene encodes the para-hydroxybenzoate-polyprenyl-transferase enzyme of the CoQ(10) synthesis pathway. We identified two patients with early-onset glomerular lesions that harbored mutations in the COQ2 gene. The first patient presented with steroid-resistant nephrotic syndrome at the age of 18 months as a result of collapsing glomerulopathy, with no extrarenal symptoms. The second patient presented at five days of life with oliguria, had severe extracapillary proliferation on renal biopsy, rapidly developed end-stage renal disease, and died at the age of 6 months after a course complicated by progressive epileptic encephalopathy. Ultrastructural examination of renal specimens from these cases, as well as from two previously reported patients, showed an increased number of dysmorphic mitochondria in glomerular cells. Biochemical analyses demonstrated decreased activities of respiratory chain complexes [II+III] and decreased CoQ(10) concentrations in skeletal muscle and renal cortex. In conclusion, we suggest that inherited COQ2 mutations cause a primary glomerular disease with renal lesions that vary in severity and are not necessarily associated with neurological signs. COQ2 nephropathy should be suspected when electron microscopy shows an increased number of abnormal mitochondria in podocytes and other glomerular cells.

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Published In

J Am Soc Nephrol

DOI

ISSN

1046-6673

Publication Date

October 2007

Volume

18

Issue

10

Start / End Page

2773 / 2780

Location

United States

Related Subject Headings

  • Urology & Nephrology
  • Ubiquinone
  • Nephrotic Syndrome
  • Mutation, Missense
  • Muscle, Skeletal
  • Mitochondrial Diseases
  • Male
  • Kidney
  • Infant
  • Humans
 

Citation

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Diomedi-Camassei, F., Di Giandomenico, S., Santorelli, F. M., Caridi, G., Piemonte, F., Montini, G., … Emma, F. (2007). COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol, 18(10), 2773–2780. https://doi.org/10.1681/ASN.2006080833
Diomedi-Camassei, Francesca, Silvia Di Giandomenico, Filippo M. Santorelli, Gianluca Caridi, Fiorella Piemonte, Giovanni Montini, Gian Marco Ghiggeri, et al. “COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.J Am Soc Nephrol 18, no. 10 (October 2007): 2773–80. https://doi.org/10.1681/ASN.2006080833.
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol. 2007 Oct;18(10):2773–80.
Diomedi-Camassei, Francesca, et al. “COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.J Am Soc Nephrol, vol. 18, no. 10, Oct. 2007, pp. 2773–80. Pubmed, doi:10.1681/ASN.2006080833.
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol. 2007 Oct;18(10):2773–2780.

Published In

J Am Soc Nephrol

DOI

ISSN

1046-6673

Publication Date

October 2007

Volume

18

Issue

10

Start / End Page

2773 / 2780

Location

United States

Related Subject Headings

  • Urology & Nephrology
  • Ubiquinone
  • Nephrotic Syndrome
  • Mutation, Missense
  • Muscle, Skeletal
  • Mitochondrial Diseases
  • Male
  • Kidney
  • Infant
  • Humans