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: Tags: Case report Source Type: research