Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

Atmaca, MUSTAFA; GÜLHAN, BORA; KORKMAZ, Emine; INOZU, Mihriban; Soylemezoglu, Oguz; CANDAN, CENGİZ; Bayazit, Aysun; Elmaci, Ahmet; Parmaksiz, Gonul; DÜZOVA, ALİ; Besbas, NESRİN; Topaloglu, REZAN; Ozaltin, FATİH

doi:10.1007/s00467-017-3634-3

Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

Atmaca M. , GÜLHAN B. , KORKMAZ E., INOZU M., Soylemezoglu O., CANDAN C., ...More

PEDIATRIC NEPHROLOGY, vol.32, no.8, pp.1369-1375, 2017 (Journal Indexed in SCI)

Publication Type: Article / Article
Volume: 32 Issue: 8
Publication Date: 2017
Doi Number: 10.1007/s00467-017-3634-3
Title of Journal : PEDIATRIC NEPHROLOGY
Page Numbers: pp.1369-1375
Keywords: Adolescent, Nephrotic syndrome, Chronic kidney disease, ADCK4 mutation, CoQ10 supplementation, NEPHROTIC SYNDROME, STEROID-RESISTANT, REGISTRY, CHILDREN

Abstract

ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration.