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Front. Pediatr. | doi: 10.3389/fped.2018.00354

Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report

 Hui-Jun Tan1, Yuan-Zong Song1*, Mei Deng1, Jian-Wu Qiu1 and Jun-Feng Wu2
  • 1First Affiliated Hospital of Jinan University, China
  • 2Department of Infectious Diseases, Quanzhou Women's and Children’s Hospital, China

Sodium taurocholate cotransporting polypeptide (NTCP) is a carrier protein encoded by the human SLC10A1 gene, acting as the principal transporter of conjugated bile salts from the plasma into hepatocytes. Although NTCP was cloned as early as in 1994 and its function has been studied extensively, clinical description of NTCP deficiency remains rather limited thus far. The patients in this paper were 2 female monozygotic twins, who were referred to our hospital at the age 2 years with the complaint of persistently-raised total bile acids (TBA) for 21 months. At age 3 months, they were both diagnosed to have cholestatic liver disease due to raised serum TBA and direct bilirubin (DBIL) with the fraction >20% of the elevated total bilirubin (TBIL). Thereafter, their jaundice subsided and the DBIL levels recovered gradually, while serum TBA remained raised persistently. In view of their refractory hypercholanemia but negative symptoms and signs, SLC10A1 genetic analysis were performed for all family members to evaluate the possibility of NTCP deficiency. As a result, the twins were both homozygotes, while the parents, carriers, of the reportedly pathogenic variant c.800C>T (p.Ser267Phe). These findings suggested that NTCP deficiency may be a unique genetic factor causing transient cholestasis in early infancy as well as persistent hypercholanemia in pediatric patients.

Keywords: Sodium taurocholate cotransporting polypeptide deficiency, SLC10A1, Bile acid, hypercholanemia, Cholestasis

Received: 15 Aug 2018; Accepted: 30 Oct 2018.

Edited by:

André Hörning, Universitätsklinikum Erlangen, Germany

Reviewed by:

Corentin Babakissa, Université de Sherbrooke, Canada
Victor M. Navas-López, Hospital Materno Infantil, Spain  

Copyright: © 2018 Tan, Song, Deng, Qiu and Wu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: MD, PhD. Yuan-Zong Song, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong Province, China, songyuanzong@vip.tom.com