二酰基甘油酰基转移酶1基因缺陷致先天性腹泻与肠病及其营养治疗
Congenital diarrhea and enteropathies caused by DGAT1 deficiency and nutritional therapy
徐罗佳 1罗优优 1陈洁1
作者信息
- 1. 浙江大学医学院附属儿童医院消化内科 国家儿童健康与疾病临床医学研究中心,杭州 310052
- 折叠
摘要
二酰基甘油酰基转移酶1(diacylglycerol o-acyltransferase 1,DGAT1)是脂肪代谢中关键的酶,当编码该酶的DGAT1基因出现突变时,可影响细胞内脂肪代谢过程进而产生机体异常表现.目前发现DGAT1基因缺陷是导致先天性腹泻与肠病的病因之一.患儿起病年龄早,其主要临床表现为蛋白丢失性胃肠病、不同程度营养不良及其他营养障碍疾病.目前尚无特效药物治疗.早期识别该基因缺陷所致疾病及早期开展营养治疗,可有效治疗该疾病,极大改善患儿预后.
Abstract
Diacylglycerol o-acyltransferase 1(DGAT1)is the key enzyme in fat metabolism.When DGAT1 gene who encodes this enzyme is mutated,it can affect the intracellular fat metabolism in organism with various clinical manifestations.DGAT1 gene deficiency is one of the causes of congenital diarrhea and enteropathies.The onset age in patients with DGAT1 deficiency is early.The main clinical manifestations of such patients include protein-losing enteropathy,malnutrition and other nutritional disorders.There is no specific drug for such disease so far.Early identification of DGAT1 deficiency and nutritional therapy in early infancy can treat this disease effectively and improve the prognosis.
关键词
婴儿/先天性腹泻与肠病/二酰基甘油酰基转移酶1/营养治疗/基因突变Key words
Infants/Congenital diarrhea and enteropathies/Diacylglycerol o-acyltransferase 1/Nutritional therapy/Gene mutation引用本文复制引用
基金项目
浙江省卫生健康委员会2024年浙江省医药卫生科技计划项目(2024KY1171)
出版年
2024
NETL
NSTL
万方数据