Liu Si, Gao Baoshan, Wang Gang, Wang Weigang, Lian Xin, Wu Shan, Yu Jinyu, Fu Yaowen, Zhou Honglan
Department of Urology, Transplant Center, First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Exp Ther Med. 2018 Apr;15(4):3169-3172. doi: 10.3892/etm.2018.5841. Epub 2018 Feb 7.
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.
原发性高草酸尿症2型是一种罕见的常染色体隐性疾病，由乙醛酸还原酶/羟基丙酮酸还原酶缺乏引起，其特征为复发性肾结石和肾钙质沉着症。在此，我们描述了一例33岁男性原发性高草酸尿症2型患者，该患者对传统治疗无反应，因此接受了肾移植。该病例表明，尽管原发性高草酸尿症2型罕见，但对于复发性肾结石患者，尤其是对传统治疗无反应的患者，应怀疑高草酸尿症，并检测血草酸和结石成分。单独的肾移植可能无法成功，可能需要进行肝肾联合移植。
