An adult with primary hyperoxaluria type 1 regrets not receiving preemptive liver transplantation during childhood: report of a case

Abstract

A 32-year-old male was suspected to have primary hyperoxaluria type 1 (PH1) and eventually underwent liver transplantation (LT). He was diagnosed with nephrolithiasis at 9years of age. Right heminephrectomy was performed for a staghorn calculus. He underwent urethrotomy for urinary retention at 12years of age. Percutaneous nephrolithotomy was performed for nephrolithiasis when he was 16years of age. He underwent frequent extracorporeal shock wave lithotripsy for recurrent nephrolithiasis from 18 to 24years of age. PH1 was suspected at 32years of age, and pharmacological therapy was also initiated. He developed renal failure at 36years of age, which was treated with intensive hemodialysis. A definitive diagnosis of PH1 was made based on a liver needle biopsy 1month later. He received a living-donor LT at 38years of age, and a living-donor kidney transplant from the same donor 8months later. Though he made a good recovery, an early diagnosis and preemptive LT are important for PH1 patients.