Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

被引：8

作者：

Atwal, P. S. ^{[1
]}

Macmurdo, C. ^{[1
]}

Grimm, P. C. ^{[2
]}

机构：

[1] Stanford Univ, Dept Pediat, Div Med Genet, 300 Pasteur Dr, Stanford, CA 94305 USA

[2] Stanford Univ, Dept Pediat, Div Nephrol, Stanford, CA 94305 USA

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2015年 / 4卷

关键词：

Maple syrup urine disease; Dialysis; Haemodialysis; Acute metabolic crisis;

D O I：

10.1016/j.ymgmr.2015.07.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic inventions. We report the only patient from our centre to have haemodialysis performed in this setting. Combined with dietary BCAA restriction and calorific support, haemodialysis allows rapid reduction in plasma leucine concentrations considerably faster than conservative methods. (C) 2015 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license.

引用

页码：46 / 48

页数：3

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