COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

ConclusionsCOQ2 nephropathy should be suspected in patients presenting with nephrotic syndrome, although less common than disease due to mutations inNPHS1,NPHS2, andWT1. The index of suspicion should remain high, and we suggest that providers consider genetic evaluation even in patients with normal leukocyte CoQ10 levels, as levels may be within normal range even with significant clinical disease. Early molecular diagnosis and specific treatment are essential in the management of this severe yet treatable condition.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research