PH1 Combined Liver Kidney Transplant Curative — ESENeph MCQ

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HardTubular DisordersPH1 Combined Liver Kidney Transplant CurativeESENeph

A 48-year-old man presents with bilateral flank pain, nephrolithiasis, and mild CKD (eGFR 62 mL/min/1.73m2). 24-hour urine shows elevated oxalate (1.5 mmol/day). Plasma oxalate is elevated. Liver biopsy shows absent alanine-glyoxylate aminotransferase (AGT) activity. What is the definitive curative treatment for this condition?

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Correct answer: B — Combined liver-kidney transplant

Primary hyperoxaluria type 1 (PH1) is caused by deficiency of hepatic AGT enzyme, leading to massive endogenous oxalate overproduction. The liver is the source of the metabolic defect. Therefore, the only definitive CURE is liver transplantation (either sequential liver then kidney, or combined liver-kidney transplant if CKD is advanced). Liver transplant corrects the metabolic defect by providing functioning AGT enzyme. Kidney transplant alone results in recurrent oxalate nephropathy in the graft. Lumasiran (RNAi targeting glycolate oxidase) is a disease-modifying substrate reduction therapy that dramatically reduces oxalate but is not curative — the enzyme defect persists. Pyridoxine helps ~30% with responsive mutations but does not normalise oxalate in most.

Reference: Cochat & Rumsby 2013 – Primary Hyperoxaluria; Hoppe et al 2022 – PH1 Management