Minimal Change Disease and Phenylketonuria in an Adult Patient: The Two Sides of Protein Homeostasis.

Abstract

Phenylketonuria (PKU) is associated with renal impairment so patients with PKU should be periodically screened for proteinuria because podocytopathies, such as minimal change disease (MCD), may be an underlying misdiagnosed condition.MCD in adults demands tight surveillance in case of severe complications including nephrotic syndrome, haematuria and acute kidney injury, and although remission with glucocorticoid therapy is typical, 50-75% of patients will relapse.MCD may be a previously unreported cause of proteinuria and renal involvement in adult patients with PKU, where control of hypertension and moderation of protein overload are essential.