| Literature DB >> 24270414 |
Laura Malaga-Dieguez, Katalin Susztak.
Abstract
Steroid-resistant nephrotic syndrome has a poor prognosis and often leads to end-stage renal disease development. In this issue of the JCI, Ashraf and colleagues used exome sequencing to identify mutations in the aarF domain containing kinase 4 (ADCK4) gene that cause steroid-resistant nephrotic syndrome. Patients with ADCK4 mutations had lower coenzyme Q10 levels, and coenzyme Q10 supplementation ameliorated renal disease in a patient with this particular mutation, suggesting a potential therapy for patients with steroid-resistant nephrotic syndrome with ADCK4 mutations.Entities:
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Year: 2013 PMID: 24270414 PMCID: PMC3859427 DOI: 10.1172/JCI73168
Source DB: PubMed Journal: J Clin Invest ISSN: 0021-9738 Impact factor: 14.808