钠牛磺胆酸共转运多肽缺陷病诊治进展  

Progress on diagnosis and treatment of sodium taurocholate cotransporting polypeptide deficiency

作　　者：马瑞雪 田云粉[2] Ma Ruixue;Tian Yunfen(Kunming University of Science and Technology,Kunming 650093,China;Pediatric Department,the 1st People's Hospital of Yunnan Province,Kunming 650032,China)

机构地区：[1]昆明理工大学医学院,650093 [2]云南省第一人民医院儿科,昆明650032

出　　处：《中国小儿急救医学》2025年第4期315-318,共4页Chinese Pediatric Emergency Medicine

基　　金：云南省科技厅-昆明医科大学应用基础研究联合专项(202201AY070001-253)。

摘　　要：钠牛磺胆酸共转运多肽(NTCP)是表达于细胞膜上的载体蛋白,可将血浆中的大部分结合胆汁酸及少量非结合胆汁酸摄入肝细胞,是参与胆汁酸肠肝循环的重要转运载体。钠牛磺胆酸共转运多肽缺陷病是由其编码基因SLC10A1突变引起的,这种突变影响了NTCP的表达和(或)功能,导致患儿出现持续性高胆汁酸血症、婴儿早期暂时性高胆红素血症及胆汁淤积等。该病无明显临床表现及体征,确诊需通过基因测序分析,目前尚无大规模流行病学统计数据,但随着基因测序在临床上的普遍开展,被确诊的患儿日渐增多,表明该病在我国并不罕见。对于该病,当前大部分临床医师了解不足,常对其过度干预,引起家长焦虑。为提高临床医师对该病的认识,本文其发病机制、临床后果、诊断、治疗及预后进行综述。Sodium taurocholate cotransporting polypeptide(NTCP)is a carrier protein expressed on the cell membrane transporting most of the plasma bound bile acids and a small amount of unbound bile acids into liver cells.It is an important transporter involved in enterohepatic circulation of bile acid.Sodium taurocholate cotransporting polypeptide deficiency(NTCPD)is caused by a mutation in its coding gene,SLC10A1,which affects the expression and/or function of NTCP.It leads to persistent hypercholanemia,temporary hyperbilirubinemia and cholestasis in early infancy.The disease lacks obvious clinical manifestations and diagnosis typically requires gene sequencing analysis.There is no large-scale epidemiological statistics,but due to the widespread development of clinical gene sequencing projects,the number of diagnosed children is increasing,indicating that the NTCPD is not rare in our country.At present,most clinicians have limited awareness of NTCPD,and often intervene excessively,leading to anxiety among parents.To improve clinicians'understanding of NTCPD,this article reviewed its pathogenesis,clinical consequences,diagnosis,treatment and prognosis.

关 键 词：钠牛磺胆酸转运多肽缺陷病 SLC10A1基因 高胆汁酸血症 高胆红素血症 胆汁淤积 

分 类 号：R725.7[医药卫生—儿科]