儿童遗传代谢病急性期的营养管理

doi:10.12372/jcp.2023.23e0366

摘要/Abstract

摘要：

遗传代谢病（IEM）是一组由于氨基酸、有机酸、脂肪酸、碳水化合物等生化代谢及线粒体能量代谢过程中的酶、受体、辅助因子或转运蛋白缺陷导致的单基因遗传病。IEM急性代谢紊乱发作可导致较高的致死率和致残率，提高急性期营养管理对改善IEM的预后意义重大。文章基于国内外IEM的指南和专家共识，结合临床实践经验，介绍常见IEM急性期儿童营养管理的原则和方案，旨在提高IEM急性期的营养管理水平和预后。

关键词: 遗传代谢病, 急性代谢紊乱, 营养管理

Abstract:

Inborn errors of metabolism (IEMs) are a group of monogenic diseases caused by defects in enzyme, receptor, cofactor or transporter during biochemical metabolism of amino acids, carbohydrates, organic acids, fatty acids and mitochondrial energy metabolism. The metabolic emergencies due to disorders in IEM leads to high mortality and disability rates in children. Improving nutrition management in acute illness is of great significance to the prognosis of IEM. Based on the latest guidelines and expert consensus of IEM at home and abroad, combined with clinical practice, we introduced the principles and protocols of nutrition management in the acute illness of IEM, which aims to improve the nutrition management and long-term prognosis of IEM.

Key words: inborn errors of metabolism, acute metabolic disorders, nutritional management

邱文娟, 杜陶子, 夏瑜. 儿童遗传代谢病急性期的营养管理[J]. 临床儿科杂志, 2023, 41(6): 401-405.

QIU Wenjuan, DU Taozi, XIA Yu. Nutritional management in acute illness of children with inborn errors of metabolism[J]. Journal of Clinical Pediatrics, 2023, 41(6): 401-405.

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IEM	葡萄糖输注速度/mg·kg^-1·min^-1							胰岛素/IU·kg^-1·h^-1
IEM	0~1月龄	2~12月龄	1~3岁	4~6岁	7~12岁	13~18岁	>18岁	胰岛素/IU·kg^-1·h^-1
MMA和PA	8~10	8~10	7~8	6~7	5~6	4~5	3~4	0.01~0.02
GA-I	8~10	8~10	7~8	6~7	/			0.025~0.05
MSUD	/							0.02~0.15
UCDs	10	8	6	6	6	6	6	/
VLCADD	各年龄段均为8							/
GSD-I	10	8	6	6	6	6	6	0.03~0.10

年龄	葡萄糖浓度/%	能量/kcal·100mL^-1	每日液量/mL·kg^-1·d^-1
<6月	10	40	150（上限1 200mL·d^-1）	每2~3小时口服或使用肠内营养泵连续管饲
7~12月	10~15	40~60	120（上限1 200mL·d^-1）
1岁	15	60	推荐液量^1）
2~9岁	20	80	推荐液量^1）
>10岁	25	100	推荐液量^1）