Progress on diagnosis and treatment of sodium taurocholate cotransporting polypeptide deficiency
10.3760/cma.j.issn.1673-4912.2025.04.015
- VernacularTitle:钠牛磺胆酸共转运多肽缺陷病诊治进展
- Author:
Ruixue MA
1
;
Yunfen TIAN
Author Information
1. 昆明理工大学医学院 650093
- Publication Type:Journal Article
- Keywords:
Sodium taurocholate cotransporting polypeptide deficiency;
SLC10A1 gene;
Hypercholanemia;
Hyperbilirubinemia;
Cholestasis
- From:
Chinese Pediatric Emergency Medicine
2025;32(4):315-318
- CountryChina
- Language:Chinese
-
Abstract:
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.
