[Clinical and genetic characteristics of 14 children with sodium taurocholate co-transporting polypeptide deficiency].

OBJECTIVES

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.