title: 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.
authors.forename: Laura
authors.initials: L
authors.lastname: Malaga-Dieguez
authors.forename: Katalin
authors.initials: K
authors.lastname: Susztak
mesh_terms: D000818:Animals; D006801:Humans; D009404:Nephrotic Syndrome / Q000235:genetics*; D011494:Protein Kinases / Q000502:physiology*; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000096:biosynthesis
chemical_list: D014451:Ubiquinone; C586096:COQ8B protein, human; D011494:Protein Kinases; C024989:coenzyme Q10