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1 型高草酸尿症患者的夜间家庭血液透析。

Nocturnal home hemodialysis for a patient with type 1 hyperoxaluria.

机构信息

Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE.

出版信息

Am J Kidney Dis. 2013 Dec;62(6):1155-9. doi: 10.1053/j.ajkd.2013.05.013. Epub 2013 Jul 4.

Abstract

Type 1 primary hyperoxaluria is a genetic disorder caused by deficiency of the liver-specific peroxisomal enzyme alanine-glyoxylate aminotransferase. This enzyme deficiency leads to excess oxalate production and deposition of calcium oxalate salts, resulting in kidney failure and systemic oxalosis. Aside from combined liver/kidney transplantation, no curative treatment exists. Various strategies for optimizing dialysis treatment have been evaluated, but neither conventional hemodialysis nor peritoneal dialysis can keep pace with oxalate production in this patient population. In this report, we describe a patient with end-stage renal disease from type 1 primary hyperoxaluria managed with nocturnal home hemodialysis. Performing hemodialysis 8-10 hours each night with blood flow of 350 mL/min and total dialysate volume of 60 L, she has maintained pre- and postdialysis serum oxalate levels at or below the level of supersaturation. We also review published literature regarding oxalate removal in various modalities of dialysis in patients with type 1 primary hyperoxaluria. In our patient, nocturnal hemodialysis has controlled serum oxalate levels better than conventional hemodialysis therapies. Home nocturnal hemodialysis should be considered an option for management of patients with end-stage renal disease from type 1 hyperoxaluria who are awaiting transplantation.

摘要

1 型原发性高草酸尿症是一种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遗传疾病。这种酶的缺乏导致草酸盐的产生过量,并沉积钙草酸盐盐,导致肾衰竭和全身草酸中毒。除了联合肝/肾移植外,目前尚无治愈方法。已经评估了各种优化透析治疗的策略,但无论是常规血液透析还是腹膜透析,都无法跟上该患者人群中草酸盐的产生速度。在本报告中,我们描述了一位 1 型原发性高草酸尿症终末期肾病患者,她接受夜间家庭血液透析治疗。每晚进行 8-10 小时血液透析,血流速度为 350 mL/min,总透析液量为 60 L,她的透析前后血清草酸盐水平保持在过饱和水平以下。我们还回顾了关于 1 型原发性高草酸尿症患者各种透析方式中草酸盐清除的已发表文献。在我们的患者中,夜间血液透析控制血清草酸盐水平的效果优于常规血液透析治疗。对于等待移植的 1 型高草酸尿症终末期肾病患者,家庭夜间血液透析应被视为一种治疗选择。

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