The Case | An unusual cause of tender skin lesion in an end-stage kidney disease patient

Abstract

A 33-year-old woman initially presented with a calcium oxalate urinary stone at the age of 12, which required several urological procedures. Biochemical testing (increased urinary oxalate and glycolate excretion) suggested primary hyperoxaluria type 1 (PH1), which was confirmed by subsequent genetic testing (heterozygous alanine glyoxylate aminotransferase [AGXT] mutations: c.508G>A, p.G170R; c.33_34insC). She was medically managed with oral potassium citrate (10 mEq 3 times daily), pyridoxine (800 mg daily), and increased fluid intake.