Clinical and genetic characteristics of 14 children with sodium taurocholate co-transporting polypeptide deficiency
10.7499/j.issn.1008-8830.2503129
- VernacularTitle:14例钠牛磺胆酸共转运多肽缺陷病患儿的临床特征与基因特点分析
- Author:
Rui-Xue MA
1
;
Wen-Hai LUO
;
Yi-Lin DAI
;
Gui-Xian LI
;
Fei WANG
;
Ou JIANG
;
Yin-Hong ZHANG
;
Yun-Fen TIAN
Author Information
1. 昆明理工大学医学院,云南 昆明 650500;云南省第一人民医院/昆明理工大学附属医院儿科,云南 昆
- Publication Type:Journal Article
- Keywords:
NTCP deficiency;
SLC10A1 gene;
Hypercholanemia;
Cholestasis;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(12):1514-1519
- CountryChina
- Language:Chinese
-
Abstract:
Objective 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.
