Wcn23-0427 coenzyme q10 supplementation in an adult patient with coq8 mutation and nephrotic syndrome alleviates renal function deterioration and remits proteinuria

COQ8 is characterized as an atypical mitochondrial kinase that participates in the multi-subunit of the COQ-enzyme and participates in the electron respiratory chain within the mitochondrion. Its ablation causes podocytic dysfunction and proteinuria in experimental nephrotic syndrome. COQ8 mutations are associated with steroid-resistant nephrotic syndrome (SRNS-9) in humans. We describe an adult patient with COQ8 mutation with nephrotic syndrome and renal function deterioration, halted after initiation of coenzyme Q10 supplementation.