表现为胆汁淤积症的NTCP缺陷病临床特点分析
Clinical characterization of NTCP deficiency disease presenting as cholestasis
来源期刊：
广州医药
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收稿时间：2026/6/4 20:50:54
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- 钠牛磺酸共转运多肽;SLC10A1基因；胆汁淤积；婴儿
- Sodium-taurocholate-cotransporting polypeptide; SLC10A1 gene; Cholestasis; Infant
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目的 探讨婴儿胆汁淤积症为表现的钠牛磺胆酸共转运多肽（NTCP）缺陷病临床特点，提高临床医生对疾病的认识。方法：回顾总结分析12例因婴儿胆汁淤积症于2018年1月-2024年12月广州医科大学附属妇女儿童医疗中心就诊并经基因检测确诊为NTCP基因缺陷病患儿的临床特征、肝功能特点、基因结果及预后转归。结果：12例患儿基因组测序结果均存在SLC10A1基因纯合突变：c.800C>T(p.Ser267Phe)，就诊中位年龄2.1月，临床表现为黄疸伴大便颜色浅；肝功能表现为顽固的高胆汁酸血症及以直接胆红素升高为主的高胆红素血症,ALT、AST水平升高者10例，伴肝肿大者5例，脾肿大者4例，经治疗后黄疸消退中位时间5个月，3例患儿行胆道冲洗及肝活检，所有患儿生长发育均无异常。 结论 NTCP 缺陷病在婴儿期可表现为胆汁淤积症，肝功能异常除高胆汁酸血症外，以直接胆红素升高为主的高胆红素血症为典型表现；本病预后良好，早期行基因检测可避免有创或过度检查
To explore the clinical features of sodium taurocholate cotransporting polypeptide (NTCP) defective disease manifested by infantile cholestasis and to improve clinicians' understanding of the disease.Methods A retrospective summary and analysis were conducted of the clinical features, liver function features, genetic findings, and prognosis of 12 children who were diagnosed with NTCP gene deficiency disease by genetic testing at The Women's and Children's Medical Center Affiliated to Guangzhou Medical University between January 2018 and December 2024 as a result of infantile cholestasis. Results 12 children were diagnosed with NTCP gene defects at a median age of 2.1 months, and all of them had a pure mutation in the SLC10A1 gene (c.800C>T(p.Ser267Phe)) by genome sequencing. Intractable hyperbilirubinemia and hyperbilirubinemia with primarily elevated direct bilirubin, elevated ALT and AST levels in 10 cases, hepatomegaly in 5 cases, splenomegaly in 5 cases, and elevated bile levels in the liver were among th
