目的 总结钠牛磺胆酸共转运多肽（sodium taurocholate co-transporting polypeptide, NTCP）缺陷病患儿的临床特征与基因特点。 方法 回顾性分析2022年7月—2025年3月云南省第一人民医院诊治的NTCP缺陷病患儿的临床资料。 结果 共纳入14例患儿，其中男性6例，女性8例，生长发育均正常。就诊病因包括血胆汁酸升高7例，黄疸4例，胆汁淤积性肝炎1例，肺炎及牛奶蛋白过敏各1例。首次就诊时，所有观察对象的血清总胆汁酸水平均高于正常值，平均达152.5 μmol/L。其中，谷丙转氨酶升高1例，谷草转氨酶升高2例，总胆红素升高10例。基因测序结果显示，所有患儿均检出SLC10A1基因c.800C>T（p.Ser267Phe）可能致病的纯合变异。 结论 NTCP缺陷病常缺乏明显临床症状及体征，部分患儿表现为暂时性高胆红素血症、胆汁淤积症或其他肝功能异常，血清胆汁酸孤立性持续升高需警惕本病。SLC10A1双等位基因致病性变异为确诊依据，该病尚无特异性治疗方法，需以对症治疗为主。

Objective To summarize the clinical and genetic characteristics of children with sodium taurocholate co-transporting polypeptide (NTCP) deficiency. Methods Clinical data of children with NTCP deficiency diagnosed and treated at the First People's Hospital of Yunnan Province from July 2022 to March 2025 were retrospectively analyzed. Results A total of 14 children were included (6 males, 8 females), all with normal growth and development. Reasons for initial consultation included elevated serum bile acids in 7 cases, jaundice in 4 cases, cholestatic hepatitis in 1 case, and one case each of pneumonia and cow's milk protein allergy. At the first visit, all patients had elevated serum total bile acids beyond the normal range, with a mean of 152.5 μmol/L. Elevated alanine aminotransferase was observed in 1 case, elevated aspartate aminotransferase in 2 cases, and elevated total bilirubin in 10 cases. Genetic sequencing revealed that all children carried the homozygous SLC10A1 variant c.800C>T (p.Ser267Phe), classified as likely pathogenic. Conclusions NTCP deficiency often lacks obvious clinical symptoms and signs. Some children present with transient hyperbilirubinemia, cholestasis, or other liver function abnormalities. Persistent isolated elevation of serum bile acids warrants suspicion for this disease. Biallelic pathogenic variants in SLC10A1 constitute the basis for definitive diagnosis. There is no specific treatment for this disease, and management is mainly symptomatic.