COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.

CONCLUSION: The 2 cases harboring COQ2compound heterozygous mutations presented with isolated SRNS, with a renal pathology of FSGS and a large quantity of mitochondria with normal contour accumulated within the podocytes. CoQ10 was efficacy in eliminating proteinuria. PMID: 33397173 [PubMed - in process]
Source: Renal Failure - Category: Urology & Nephrology Tags: Ren Fail Source Type: research