Liver transplantation for primary hyperoxaluria type 1: a single-center experience during two decades in Japan.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type -1 (PH 1 ) is an autosomal recessive disorder caused by impaired activity of hepatic peroxisomal alanine-glyoxylate aminotransferase that leads to end-stage renal disease (ESRD ). A definitive diagnosis is often delayed until ESRD appears . Based on the etiology , liver transplantation (LT ) seems to be the definitive treatment .Three PH 1 patients underwent LT at our institution during two decades .Two of the patients had family histories of cryptogenic ESRD . All three showed disease onset in childhood , but the definitive diagnosis was delayed in two cases (17 and 37 Â years of age ). These delayed cases resulted in ESRD , and hemodialysis (HD ) had been introduced before LT . One patient received domino LT , and the other two underwent living-donor LT (LDLT ). One patient finally died of sepsis , and was unable to receive a kidney transplantation (KT ) after the domino LT . One patient did not show ESRD , and did not have to undergo KT after LDLT , although extracorporeal shock wave lithotripsy was required for residual ureterolithiasis (8 Â years after LDLT ). The third patient had an uneventful course after LDLT and received living-donor KT from the same donor 8 Â months after LDLT . Subsequently , HD was successfully withdrawn .Establishment of a definitive diagnosis of PH 1 is essential . If a methodology for early diagnosis and an intensive care strategy for neonates and infants during the waiting time become well-established , a timely and preemptive LT alone can provide a good chance of cure for PH 1 patients .