Журнал клинических случаев

Primary Hyperoxaluria Type 1: A Case Report and Family Study

Abstract

Julaina AJ, Tan SL, Nur-Jannah A, Yusnita Y and Zabedah MY

Primary hyperoxaluria (PH) is a rare disorder that can cause renal failure due to accumulation of oxalate crystals. This study reports an eight-year-old female, product of consanguineous marriage, with strong family history of renal calculi, who presented with acute on chronic renal failure. Imaging revealed bilateral staghorn calculi and renal cortical nephrocalcinosis. Molecular studies confirmed primary hyperoxaluria type 1 in the patient, and carrier status in her parents. Patient ultimately required renal replacement therapy with hemodialysis. Organ transplantation has not yet been explored.