原发性高草酸尿症II型与器官移植

方翊灵; 苗芸

doi:10.3969/j.issn.1674-7445.2023145

原发性高草酸尿症II型与器官移植

doi: 10.3969/j.issn.1674-7445.2023145

方翊灵,
苗芸^,

510515　广州，南方医科大学南方医院器官移植科

基金项目: 国家自然科学基金（82270784、82070770）

详细信息

作者简介:

通讯作者:
苗芸（ORCID：0000-0003-3592-4695），博士，主任医师，研究方向为肾移植，Email：miaoyunecho@126.com

中图分类号: R617， R692
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出版历程
- 收稿日期: 2023-07-23
- 录用日期: 2023-09-19
- 网络出版日期: 2023-10-11
- 刊出日期: 2023-11-09

Primary hyperoxaluria type II and organ transplantation

Fang Yiling,
Miao Yun^,

Department of Organ Transplantation, Nanfang Hospital of Southern Medical University, Guangzhou 510515, China

More Information

Corresponding author: Miao Yun, Email: miaoyunecho@126.com

摘要

摘要: 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。
- 原发性高草酸尿症Ⅱ型 /
- 肾结石 /
- 终末期肾病（ESRD） /
- 肾移植 /
- 肝肾联合移植 /
- 草酸钙结石
Abstract: Primary hyperoxaluria type Ⅱ (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.
- Primary hyperoxaluria type Ⅱ /
- Kidney stone /
- End-stage renal disease (ESRD) /
- Kidney transplantation /
- Combined liver and kidney transplantation /
- Calcium oxalate stone

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表 1 PH2患者器官移植策略及预后报道

Table 1. Organ transplantation strategies and prognosis of PH2 patients reported in literature

研究者	n	发病年龄（岁）	基因突变	移植年龄（岁）	手术指征	移植策略	术后随访时间（月）	结局
Garrelfs SF, et al ^[14]	6	－^①	－	－	－	肾移植5例肝肾联合移植1例	12.0～264.0	1例肝肾联合移植受者死亡，其余5例移植肾均失功
Hosaagrahara Ramakrishna S, et al ^[15]	1	9	c.735-1G>A	12	CKD 5期，系统性草酸沉着症	肝肾联合移植	18.0	移植肾存活
Lam CW, et al ^[28]	1	4	c.862_863delTG	－	双肾结石，CKD 5期	肾移植+双侧肾切除	－	移植肾存活
Naderi G, et al ^[29]	1	<5	－	9	CKD 5期	肾移植	11.0	移植肾失功、切除
Liu S, et al ^[30]	1	23	c.864_865delTG	33	CKD 5期	肾移植	1.6	移植肾失功、切除
Dhondup T, et al ^[31]	2	6	c.139C>T	37、44	急性肾衰竭、肾移植后移植肾衰竭	肾移植、肝肾联合移植	12.8、60.0	单独肾移植后移植肾失功，肝肾联合移植后移植肾存活
Del Bello A, et al ^[32]	1	22	c.103delG	41	CKD 5期	肾移植	6.0	移植肾失功
Del Bello A, et al ^[33]	1	22	c.103delG	43	肾移植后移植肾衰竭	肝肾联合移植	15.0	移植肾存活
Jia Z, et al ^[34]	1	－	c.532_533delCA	26	CKD 5期，肾移植后草酸盐肾病复发	肾移植后追加肝移植	2.0	移植肾失功
Genena KM, et al ^[35]	1	18	c.103delG; c.781_782delinsTAC	30	CKD 5期	肝肾联合移植	12.0	移植肾存活
Yau AA, et al ^[36]	1	－	c.494G>A	56	－	肾移植	>3.0	移植肾存活
Monico CG, et al ^[37]	1	－	－	22	－	肾移植	242.4	移植肾存活
注：①－指文献未报道。

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