De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report  

作　　者：Hui-Yan Liu Meng Li Qi Li 

机构地区：[1]Department of Pediatrics,the First Affiliated Hospital of Kunming Medical University,Kunming 650000,Yunnan Province,China

出　　处：《World Journal of Clinical Cases》2021年第36期11487-11494,共8页世界临床病例杂志

基　　金：Yunnan Science Foundation Project,No.2019-81960102.

摘　　要：BACKGROUND Sodium taurocholate cotransport polypeptide(NTCP)deficiency disease is a genetic metabolic disorder due to mutations in the SLC10A1 gene and impaired bile acid salt uptake by the basolateral membrane transport protein NTCP in hepatocytes.A variety of clinical manifestations and genetic mutation loci have been reported for this disease.However,specific therapeutic measures are lacking,and the long-term effects are unknown.CASE SUMMARY An infant with elevated bile acids and behavioral neurodevelopmental delay failed to respond to bile acid-lowering therapy.Genetic testing for metabolic liver disease revealed that the child had NTCP deficiency due to the SLC10A1 mutation:c.422dupA(p.Y141X),which is a novel mutation site.The current followup revealed a gradual decrease in bile acid levels after 1 year of age,but the child still had behavioral neurodevelopmental delays.CONCLUSION The clinical manifestations,genetic characteristics,treatment and long-term prognosis due to NTCP deficiency remain poorly defined and need to be further confirmed by more studies and reports.

关 键 词：Sodium taurocholate cotransport polypeptide SLC10A1 gene HYPERCHOLESTEROLEMIA Behavioral neurodevelopmental delay Children Case report 

分 类 号：R723.2[医药卫生—儿科]