To analyze the clinical features, genetic spectrum, and natural history of sodium taurocholate cotransporting polypeptide deficiency (NTCPD) in a pediatric cohort, highlighting its clinical significance.
Approach:
Key Findings:
Patients in the jaundice group were significantly younger than those in the IH group (p = 0.003).
Jaundice group exhibited predominantly indirect hyperbilirubinemia and elevated γ-glutamyl transferase (γ-GT) levels (p = 0.001).
All patients normalized liver function parameters during follow-up.
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.
Interpretation:
The study confirms the predominance of the c.800C > T mutation in Chinese children with NTCPD, revealing phenotypic heterogeneity and generally favorable outcomes, which may have implications for clinical management.
Limitations:
Study conducted at a single center, limiting generalizability and introducing potential biases.
Small sample size may affect the robustness of findings.
Conclusion:
The study expands the clinical data on NTCPD in children, emphasizing the need for future multi-center collaborations and extended follow-up to elucidate genotype-phenotype correlations and their clinical implications.
