Liu HY, Li M, Li Q. De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report. World J Clin Cases 2021; 9(36): 11487-11494 [PMID: 35071582 DOI: 10.12998/wjcc.v9.i36.11487]
Corresponding Author of This Article
Qi Li, PhD, Professor, Department of Pediatrics, the First Affiliated Hospital of Kunming Medical University, No. 295 Xichang Road, Kunming 650000, Yunnan Province, China. 412289442@qq.com
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Dec 26, 2021; 9(36): 11487-11494 Published online Dec 26, 2021. doi: 10.12998/wjcc.v9.i36.11487
De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report
Hui-Yan Liu, Meng Li, Qi Li
Hui-Yan Liu, Meng Li, Qi Li, Department of Pediatrics, the First Affiliated Hospital of Kunming Medical University, Kunming 650000, Yunnan Province, China
Author contributions: Liu HY, Li M and Li Q performed the diagnostic investigations and treatments; Liu HY reviewed the literature and contributed to manuscript drafting; Li M and Li Q revised the manuscript; all authors issued final approval for the version to be submitted.
Supported byYunnan Science Foundation Project, No. 2019-81960102.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Qi Li, PhD, Professor, Department of Pediatrics, the First Affiliated Hospital of Kunming Medical University, No. 295 Xichang Road, Kunming 650000, Yunnan Province, China. 412289442@qq.com
Received: August 14, 2021 Peer-review started: August 14, 2021 First decision: September 29, 2021 Revised: October 10, 2021 Accepted: November 18, 2021 Article in press: November 18, 2021 Published online: December 26, 2021
Abstract
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 follow-up 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.
Core Tip: The mutation loci and clinical manifestations of sodium taurocholate cotransport polypeptide deficiency disease are currently under further investigation. Our case emphasizes the need to re-examine the clinical manifestations, prognosis and interventions associated with hypercholesterolemia due to this disease and suggests that behavioral neurodevelopmental delay may also be a clinical manifestation of this disease.
