原发性高草酸尿症Ⅱ型与器官移植

Primary hyperoxaluria type Ⅱ and organ transplantation

原发性高草酸尿症Ⅱ型(PH2)是由乙醛酸还原酶/羟基丙酮酸还原酶(GRHPR)基因突变引起的乙醛酸代谢障碍性遗传病。其特征是复发性肾草酸钙结石和肾钙盐沉着症,严重者可进展至终末期肾病。器官移植是目前治愈PH2的唯一方法,主要包括肾移植和肝肾联合移植两种策略。前者有较高的草酸盐肾病复发风险,可能造成移植肾早期失功。后者能纠正草酸代谢缺陷,但具有较高的移植物并发症发生风险。由于PH2的罕见性,目前尚未就该疾病器官移植的指征、术式选择、围手术期管理等达成共识。本文就PH2的发病机制、诊断与监测以及器官移植经验做一综述,旨在引起临床医师对PH2的重视,并为PH2诊治方案尤其是移植策略的制定提供参考。

Primary hyperoxaluria typeⅡ(PH2)is an inherited disorder of the glyoxylate metabolism caused by the gene mutation of glyoxylate reductase/hydroxypyruvate reductase(GRHPR).PH2 is characterized by recurrent nephrolithiasis and nephrocalcinosis,which may even progress into end-stage renal disease.Currently,organ transplantation is the only treatment option for PH2,which mainly includes two strategies:kidney transplantation and combined liver and kidney transplantation.Kidney transplantation yields a high risk of recurrence of oxalate nephropathy,which may cause early graft dysfunction.Combined liver and kidney transplantation could mitigate the deficiency of oxalate metabolism,whereas it yields a high risk of graft complications.PH2 is an extremely rare disorder.No consensus has been reached on the indications,surgical selection and perioperative management of organ transplantation for PH2 patients.In this article,the pathogenesis,diagnosis,monitoring and organ transplantation experience of PH2 were reviewed,aiming to divert clinicians'attention to PH2 and provide reference for determining diagnosis and treatment regimens,especially transplantation strategy for PH2 patients.