Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.
Eujin ParkHee Gyung KangYoung Hun ChoiKyoung Bun LeeKyung Chul MoonHyeon Joo JeongMichio NagataHae Il CheongPublished in: Pediatric nephrology (Berlin, Germany) (2017)
ADCK4 mutations should be considered in older children presenting with steroid resistant FSGS. An early diagnosis of ADCK4 mutations is essential because the condition is treatable with CoQ10 supplementation at an early stage. The association with medullary nephrocalcinosis may be an additional diagnostic indicator.