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ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 38 Issue 3
Mar.  2022
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Article Navigation >  Journal of Clinical Hepatology  > 2022  >  38(3): 613-616

Clinical features of sodium taurocholate cotransporting polypeptide deficiency and an analysis of SLC10A1 gene mutation

DOI: 10.3969/j.issn.1001-5256.2022.03.022

  • Department of Infectious Diseases, Guangzhou Women and Children's Medical Center, Guangzhou 510120, China

Research funding:

Guangzhou Health Science and Technology Project (20201A011036)

More Information
  • Corresponding author: XU Yi, xuyi70@163.com(ORCID: 0000-0001-8971-9334)
  • Received Date: 2021-08-17
  • Accepted Date: 2021-09-20
  • Published Date: 2022-03-20
    Abstract
  •   Objective  To investigate the clinical and gene mutation features of sodium taurocholate cotransporting polypeptide (NTCP) deficiency.  Methods  A total of 10 children, aged < 18 years, who were diagnosed with NTCP deficiency in Guangzhou Women and Children's Medical Center from June 2020 to June 2021 were enrolled, and related data were analyzed, including general information (sex, age, body height, body weight, family history, and past history), clinical manifestation, disease outcome, laboratory examination (routine blood test, liver function, hepatotropic virus, and autoimmune hepatitis screening), and gene mutation.  Results  All 10 children had normal growth and development, among whom there were 8 boys and 2 girls, with an age of 3-37 months at the time of diagnosis. The etiology of children attending the hospital for the first time was prolonged jaundice (5/10, 50%), elevation of aminotransferases (2/10, 20%), abnormal physical examination results (2/10, 20%), and pneumonia (1/10, 10%). At the time of diagnosis, all children had a significant increase in serum total bile acid (TBA), 2 children had increases in alanine aminotransferase and aspartate aminotransferase, and 1 child had an increase in total bilirubin (TBil), mainly direct bilirubin (DBil) (DBil/TBil ratio > 50%). Second-generation gene sequencing showed that all 10 children had a homozygous mutation of the SLC10A1 gene, i.e., c.800C > T(p.Ser267Phe, chr14∶70245193).  Conclusion  Although NTCP deficiency often has no symptoms, some of the children may manifest as infant cholestasis in the early stage. The possibility of NTCP deficiency should be considered when there is persistent hypercholanemia and the changing trend of serum TBA is not consistent with that of other liver function parameters.

     

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