Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency / 临床肝胆病杂志

ABSTRACT

Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency is a new hereditary bile acid metabolic disease due to biallelic mutations of the SLC10A1 gene and is not rare in China. Marked and persistent hypercholanemia in childhood is the major clinical feature of NTCP deficiency, and this condition might be involved in the development of neonatal hyperbilirubinemia, cholestasis in early infancy, and cholestasis in pregnancy. At present, there lack specific therapies for NTCP deficiency, but such patients tend to have good prognosis. SLC10A1 gene detection may facilitate the timely and definite diagnosis of this disease and thus avoid unnecessary examinations and interventions.