成人SLC10A1基因突变致NTCP缺陷病1例报告*

doi:10.3969/j.issn.1672-5069.2026.05.039

实用肝脏病杂志 ›› 2026, Vol. 29 ›› Issue (5): 793-795.doi: 10.3969/j.issn.1672-5069.2026.05.039

成人SLC10A1基因突变致NTCP缺陷病1例报告^*

林金, 杨帆, 凡小丽, 杨丽

610000 四川省成都市四川大学华西医院消化系统肿瘤与肝病研究室

收稿日期:2026-04-02 发布日期:2026-09-14
通讯作者: 杨丽,E-mail:yangli_hx@scu.edu.cn
作者简介:林金,女,23岁,博士研究生。E-mail:2021181620212@stu.scu.edu.cn
基金资助:
四川大学华西医院慢性肝病基础诊疗关键技术与转化研究(编号:ZYGD23031)

Adult sodium taurocholate co - transporting polypeptide deficiency disease caused by solute carrier family 10 member 1 gene mutation: A case report

Lin Jin, Yang Fan, Fan Xiaoli, et al

Institute of Gastrointestinal Tumor and Liver Disease Studt,West China Hospital,Sichuan University,Chengdu 610000,Sichuan Province, China

Received:2026-04-02 Published:2026-09-14

摘要/Abstract

关键词: 钠牛磺胆酸共转运多肽缺陷病, SLC10A1基因, 突变, 病例报道

Key words: Sodium taurocholate co - transporting polypeptide deficiency disease, Solute carrier family 10 member 1, Mutation;Case report

林金, 杨帆, 凡小丽, 杨丽. 成人SLC10A1基因突变致NTCP缺陷病1例报告^*[J]. 实用肝脏病杂志, 2026, 29(5): 793-795.

Lin Jin, Yang Fan, Fan Xiaoli, et al. Adult sodium taurocholate co - transporting polypeptide deficiency disease caused by solute carrier family 10 member 1 gene mutation: A case report[J]. Journal of Practical Hepatology, 2026, 29(5): 793-795.

参考文献

[1] Da Silva T C, Polli J E, Swaan P W. The solute carrier family 10 (SLC10): beyond bile acid transport. Mol Asp Med, 2013, 34(2-3): 252-269.
[2] 高小强, 左石, 贾晓东,等.钠牛磺胆酸共转运多肽在肝胆疾病中的研究进展. 临床肝胆病杂志, 2022, 38(5): 1179-1182.
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[4] 陆伦根,蔡晓波,王建设,等. 胆汁淤积性肝病管理指南(2021年). 临床肝胆病杂志, 2022, 38(1): 62-69.
[5] Trauner M, Karpen S J, Dawson P A. Benefits and challenges to therapeutic targeting of bile acid circulation in cholestatic liver disease. Hepatol Baltim Md, 2025, 82(4): 855-876.
[6] Kullak-Ublick G A, Beuers U, Paumgartner G. Hepatobiliary transport. J Hepatol, 2000, 32(1 Suppl): 3-18.
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[8] Faber K N, Müller M, Jansen P L M. Drug transport proteins in the liver. Adv Drug Deliv Rev, 2003, 55(1): 107-124.
[9] Vaz F M, Paulusma C C, Huidekoper H, et al. Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology, 2015, 61(1): 260-267.
[10] Deng LJ, Ouyang WX, Liu R, et al. Clinical characterization of NTCP deficiency in paediatric patients: a case-control study based on SLC10A1 genotyping analysis. Liver Int, 2021, 41(11): 2720-2728.
[11] Dai Z, Li Y, Zhu C. A rare cause of liver injury in an adult. Gastroenterology, 2025, 168(4): 659-662.
[12] Hagenbuch B, Stieger B, Locher K P. Organic anion transporting polypeptides: pharmacology, toxicology, structure, and transport mechanisms. Pharmacol Rev, 2025, 77(2): 100023.
[13] Bacq Y, Sapey T, Bréchot M C, et al. Intrahepatic cholestasis of pregnancy: a French prospective study. Hepatology, 1997, 26(2): 358-364.
[14] Van Herpe F, Waterham H R, Adams C J, et al. NTCP deficiency and persistently raised bile salts: an adult case. J Inherit Metab Dis, 2017, 40(3): 313-315.
[15] Chen R, Deng M, Rauf YM, et al. Intrahepatic cholestasis of pregnancy as a clinical manifestation of sodium-taurocholate cotransporting polypeptide deficiency. Tohoku J Exp Med, 2019, 248(1): 57-61.

成人SLC10A1基因突变致NTCP缺陷病1例报告^*

Adult sodium taurocholate co - transporting polypeptide deficiency disease caused by solute carrier family 10 member 1 gene mutation: A case report

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