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J Clin Invest. 2013 Dec;123(12):4996-9. doi: 10.1172/JCI73168. Epub 2013 Nov 25.

ADCK4 "reenergizes" nephrotic syndrome.

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.

PMID:
24270414
PMCID:
PMC3859427
DOI:
10.1172/JCI73168
[Indexed for MEDLINE]
Free PMC Article

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