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Article

Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2017

Park Eujin, Kang Hee Gyung, Choi Young Hun, Lee Kyoung Bun, Moon Kyung Chul, Jeong Hyeon Joo, Nagata Michio, Cheong Hae Il

Abstract excerpt

BACKGROUND: Mutations in the AarF domain containing kinase 4 gene (ADCK4), one of the novel genes causing steroid-resistant nephrotic syndrome (SRNS), usually manifest as isolated adolescent-onset focal segmental glomerulosclerosis (FSGS). ADCK4 interacts with components of the coenzyme Q10 (CoQ10) biosynthesis pathway. METHODS: The incidence and phenotypes of patients with ADCK4 mutations were investigated in a...

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Identifiers

PMID: 28405841
DOI: 10.1007/s00467-017-3657-9

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