Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report
Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report
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复发性原发性高草酸尿症 2 型导致移植后早期肾功能丧失：病例报告
DOI：
10.3892/etm.2018.5841
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发表时间：
2018-04-01
影响因子：
2.7
通讯作者：
Zhou, Honglan
中科院分区：
文献类型：
--
作者：
Liu, Si;Gao, Baoshan;Zhou, Honglan
原发性高尿酸2型是一种罕见的常染色体隐性遗传病，由乙醛酸还原酶/羟基丙酮酸还原酶缺乏引起，以肾结石和肾钙质沉着症的反复发作为特征。在此，我们描述了一个33岁的男性原发性高尿酸2型患者，他对常规治疗无效，因此进行了肾移植。本病例表明，虽然原发性高尿酸2型是罕见的，高尿酸应被怀疑和血草酸盐和结石成分的肾结石反复发作的患者进行检查，特别是在那些对传统治疗无反应。可能需要肝肾联合移植，因为单独的肾移植不太可能成功。
Primary hyperoxaluria type 2 is a rare autosomal recessive disorder caused by glyoxylate reductase/hydroxypyruvate reductase deficiency and characterized by recurrent episodes of nephrolithiasis and nephrocalcinosis. Herein, we describe a case of primary hyperoxaluria type 2 in a 33-year-old man who failed to respond to conventional therapies; thus renal transplantation was performed. This case demonstrated that, although primary hyperoxaluria type 2 is rare, hyperoxaluria should be suspected and blood oxalate and stone component be examined in patients with recurrent episodes of nephrolithiasis, particularly in those who are unresponsive to conventional therapies. Combined liver-kidney transplant may be required as kidney transplant alone is not likely to be successful.