Ren Q, Ju W, Wang D, Guo Z, Chen M, He X
Department of hepatobiliary and pancreatic surgery, Peking University Shenzhen Hospital, Shenzhen China.
Organ Transplant Center, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
JNMA J Nepal Med Assoc. 2017 Jan-Mar;56(205):175-178.
Primary hyperoxaluria type 1 is an autosomal recessive hereditary glyoxylate metabolism disorder characterized by excessive production of oxalate, caused by the deficiency of liver specific peroxisomal enzyme: alanineglyoxylate aminotransferase. For patients with end-stage renal disease, combined liver and kidney transplantation was needed. This report describes one patient, with a diagnosis of end-stage renal disease and primary hyperoxaluria 1 confirmed by PCR and direct sequencing with genomic DNA, received the simultaneous combined liver and kidney transplantation after seven months' waiting. However, there were several complications observed post surgery, such as protracted bleeding, common bile duct anastomotic stenosis, biliary calculi and recurrence of urolithiasis. All these were well solved by relevant department, and finally a satisfactory outcome was achieved. Multidisciplinary cooperation plays an important role on the PH1 patient management, especially when multiple complications are encountered.
1型原发性高草酸尿症是一种常染色体隐性遗传性乙醛酸代谢紊乱疾病，其特征是草酸盐产生过多，这是由肝脏特异性过氧化物酶体酶：丙氨酸乙醛酸氨基转移酶缺乏引起的。对于终末期肾病患者，需要进行肝肾联合移植。本报告描述了一名患者，经PCR和基因组DNA直接测序确诊为终末期肾病和1型原发性高草酸尿症，在等待7个月后接受了同期肝肾联合移植。然而，术后观察到了一些并发症，如持续出血、胆总管吻合口狭窄、胆结石和尿路结石复发。所有这些问题都由相关科室妥善解决，最终取得了满意的结果。多学科合作在1型原发性高草酸尿症患者的管理中起着重要作用，尤其是在遇到多种并发症时。
