Article
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
Journal of the American Society of Nephrology : JASN - 1 Jan 2016
Korkmaz Emine, Lipska-Ziętkiewicz Beata S, Boyer Olivia, Gribouval Olivier, Fourrage Cecile, Tabatabaei Mansoureh, Schnaidt Sven, Gucer Safak, Kaymaz Figen, Arici Mustafa, Dinckan Ayhan, Mir Sevgi, Bayazit Aysun K, Emre Sevinc, Balat Ayse, Rees Lesley, Shroff Rukshana, Bergmann Carsten, Mourani Chebl, Antignac Corinne, Ozaltin Fatih, Schaefer Franz
Abstract excerpt
Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.9% among 534 consecutively screened cases. Patients with ADCK4 mutations showed a largely renal-limited phenotype, with three...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.