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Clinical and genetic characteristics of children with sodium taurocholate cotransporting poly-peptide deficiency
Lina Du1, Mengyao Zhou1, Jing Yang1
1Department of Pediatric Gastroenterology, Chengdu Women and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, Sichuan, China.
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.
Methods:
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.
Results:
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 γ-glutamyl transferase (γ-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.
Discussion:
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 γ-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.
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