Literature DB >> 24270414

ADCK4 "reenergizes" nephrotic syndrome.

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.

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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


  18 in total

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4.  Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.

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5.  Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4.

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Review 10.  Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.

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