Clinical features of 14 pediatric patients with sodium taurocholate cotransporting polypeptide deficiency disease and their gene analysis
HUANG Fangli
DENG Yinye
LAI Wuchao
WU Dan
TAN Wenhai
MO Haipu
DAI Yan
Abstract：Objective To summarize the clinical features,related gene mutations and genetic status of 14 pediatric patients with sodium taurocholate cotransporting polypeptide(NTCP)deficiency disease and to improve clinicians'understanding of NTCP deficiency disease in children.Methods The clinical manifestations,laboratory tests and gene analysis results in the pediatric patients who underwent gene analysis and were diagnosed with NTCP deficiency disease in the People's Hospital of Guangxi Zhuang Autonomous Region from October 2021 to October 2024 were collected for descriptive statistical analysis.Results A total of 14 pediatric patients were diagnosed with NTCP deficiency disease,with the initial symptom of jaundice manifesting through yellow skin in 4 cases,elevated total bile acids found during physical examination/hospitalization in 10 cases,and liver enlargement found during physical examination in 3 cases.All the pediatric patients were detected to have SLC10A1 gene variants(c.800C＞T,p.Ser267Phe)(chr14:70245193,NM_003049).All the pediatric patients had homozygous variants,and 4 pediatric patients were complicated with other genetic defects,among whom 1 patient was complicated with BLVRA gene heterozygous variants(c.119T＞C),1 patient with HBA2 gene heterozygous variants(c.427T＞C),1 patient with G6PD gene hemizygote variants(c.95A＞G),and 1 patient with G6PD gene hemizygote variants(c.1376G＞T).Conclusion All the 14 pediatric patients with NTCP deficiency disease show an increase in total bile acids and are detected to have homozygous variants in SLC10A1.For the pediatric patients with persistent elevation of total bile acids,genetic testing should be perfected as much as possible to definite diagnosis and treatment as early as possible,thereby improving the pediatric patients'quality of life and prognosis.
Keywords：Sodium taurocholate cotransporting polypeptide deficiency diseaseSodium taurocholate cotransporting polypeptide(NTCP)Total bile acidsSLC10A1 gene
Publication Date：2025-03-30
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 263-267 )