Abstract:

Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency disease is a bile acid metabolic disease caused by biallelic mutations in solute carrier family 10 member 1 (SLC10A1), with regional and racial differences in distribution, and SLC10A1 c.800C>T (p.Ser267Phe) is a high-frequency mutation in China. Children with NTCP deficiency disease are mainly manifested as pathological jaundice and a small proportion could have delayed growth, motor and neurological development. While in adults, clinical symptoms and signs are not obvious, biochemical tests indicate elevated serum total bile acid levels, and some are accompanied by decreased levels of transaminase and 25-hydroxyvitamin D₃. The high concentration of serum bile acids of NTCP deficiency needs to be distinguished from hepatitis B and D virus infection, autoimmune hepatitis and intrahepatic cholestasis of pregnancy. There have been few reports about the effects of pregnancy combined with the high concentration of serum bile acids caused by NTCP deficiency on the mother and fetus. The molecular genetic mechanism, clinical manifestations, laboratory tests, diagnosis, treatments and its impact on the mother and fetus of NTCP deficiency disease were reviewed to provide a basis for the clear diagnosis and correct intervention of patients with this disease.

Key words: Genetic variation, Solute carrier proteins, Cholestasis, intrahepatic, Sodium-taurocholate cotransporting polypeptide deficiency disease, SLC10A1 gene