Clinical features of sodium taurocholate cotransporting polypeptide deficiency and an analysis of SLC10A1 gene mutation / 临床肝胆病杂志
Journal of Clinical Hepatology
;
(12): 613-616, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-922963
ABSTRACT
Objective To investigate the clinical and gene mutation features of sodium taurocholate cotransporting polypeptide (NTCP) deficiency. Methods A total of 10 children, aged 50%). Second-generation gene sequencing showed that all 10 children had a homozygous mutation of the SLC10A1 gene, i.e., c.800C > T(p.Ser267Phe, chr14∶70245193). Conclusion Although NTCP deficiency often has no symptoms, some of the children may manifest as infant cholestasis in the early stage. The possibility of NTCP deficiency should be considered when there is persistent hypercholanemia and the changing trend of serum TBA is not consistent with that of other liver function parameters.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Clinical Hepatology
Ano de publicação:
2022
Tipo de documento:
Artigo
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