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Research Article: Clinical and genetic characteristics of children with sodium taurocholate cotransporting poly-peptide deficiency

Date Published: 2026-06-10

Abstract:
Sodium taurocholate cotransporting polypeptide deficiency (NTCPD) is an autosomal recessive disorder caused by SLC10A1 gene mutations. This study analyzed the clinical features, genetic spectrum, and natural history of NTCPD in a single-center pediatric cohort to guide clinical management. We conducted a retrospective review of clinical and genetic data from children diagnosed with NTCPD between September 2020 and August 2024, and performed a 12-month observational follow-up. This study included 19 children who exhibited heterogeneous clinical presentations. The participants were categorized into a jaundice group ( n =?9) and an Incidental Hypercholanemia (IH) group ( n =?10). Compared to the IH group, patients in the jaundice group were significantly younger ( p =?0.003), predominantly exhibited indirect hyperbilirubinemia, and had markedly elevated ? -glutamyl transferase ( ? -GT) levels ( p =?0.001). All patients achieved normalization of liver function parameters during follow-up. Genetic analysis revealed biallelic SLC10A1 variants in all patients, including the pathogenic p.S267F variants and other variants currently classified as variants of uncertain significance. The homozygous c.800C?>?T (p.Ser267Phe) variant was the most prevalent (14/19). Four novel variants were identified: c.101T?>?C, c.551delT, c.896T?>?C and c.654_674dup. This study expands the clinical data of Chinese children with NTCPD, confirming the predominance of the c.800C?>?T mutation and revealing phenotypic heterogeneity alongside generally favorable outcomes. Elevated ? -GT levels suggest potential biliary system involvement in the pathophysiology of the disease. Future multi-center collaborations and extended follow-up are warranted to further elucidate genotype-phenotype correlations and long-term prognostic outcomes.

Introduction:
Sodium taurocholate cotransporting polypeptide deficiency (NTCPD) is an autosomal recessive disorder caused by SLC10A1 gene mutations. This study analyzed the clinical features, genetic spectrum, and natural history of NTCPD in a single-center pediatric cohort to guide clinical management.

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