Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review
Herein, a 3-year-old boy presented with hidden-onset isolated proteinuria was reported. The disease was induced by COQ8B (previously termed ADCK4) compound heterozygous variants, including c.[271C > T] and c.[737...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Shu-bo Zhai, Li Zhang, Bai-chao Sun, Yan Zhang and Qing-shan Ma Tags: Case report Source Type: research