2例钠牛磺胆酸共转运多肽缺陷病患儿临床分析  

Clinical analysis of two pediatric patients with sodium taurocholate co-transporting polypeptide deficiency

作　　者：孙文君 于飞[1] SUN Wenjun;YU fei(Department of Endocrine Genetic Metabolism in Children,Maternal and Child Hospital of Hubei Province,Tongji Medical College Huazhong University of Science and Technology,Hubei Province,Wuhan 430000,China)

机构地区：[1]华中科技大学同济医学院附属湖北省妇幼保健院儿童内分泌遗传代谢科,湖北武汉430000

出　　处：《中国医药导报》2020年第17期185-188,共4页China Medical Herald

基　　金：湖北省卫生健康委员会联合基金项目(WJ2019H291)。

摘　　要：钠牛磺胆酸共转运多肽(NTCP)缺陷病是近年来新发现的一种遗传性胆汁酸代谢障碍性疾病,本研究旨在提高对NTCP缺陷病的认识,选取华中科技大学附属湖北省妇幼保健院儿童内分泌遗传代谢科分别以生长发育落后及黄疸就诊的2例患儿,虽临床表现不同,但均发现有顽固性的高胆汁酸血症,并伴有25-羟维生素D下降,行基因分析发现SLC10A1突变,临床确诊为NTCP缺陷病,经积极对症治疗后临床症状缓解,预后较好。该研究提示,对于显著而持续性的高胆汁酸血症的新生儿及儿童患者,需考虑NTCP缺陷病可能。NTCP缺陷病患儿远期可能出现身材矮小等生长发育落后情况,生长激素或可改善NTCP缺陷病患者的终身高。Sodium taurocholate cotransporting polypeptide(NTCP)deficiency is a newlydiscovered hereditary bile acid metabolic disorder in recent years.The aim of this research is to improve the understanding of NTCP deficiency.Two cases who presented with failure to thriveand jaundice in Department of Endocrine Genetic Metabolism in Children,Maternal and Child Hospital of Hubei Province,Tongji Medical College Huazhong University of Science and Technology were selected.Although the clinical manifestations were different,refractory hyperbile acidemia was found in all patients,and accompanied by a decrease in 25-hydroxy vitamin D.Genetic analysis revealed SLC10 A1 mutation,which was clinically diagnosed as NTCP deficiency.After positive symptomatic treatment,the clinical symptoms were relieved and the prognosis was good.This study suggests that NTCP deficiency should be considered in neonates and children with significant and persistent hyperbile acidemia.Pediatric patients with NTCP deficiency may suffer from stunted growth and development in the long term and growth hormone may improve the lifetime height of patients with NTCP deficiency.

关 键 词：钠牛磺胆酸共转运多肽缺陷病 高胆汁酸血症 SLC10A1基因突变 患儿 

分 类 号：R596.1[医药卫生—内科学]