钠离子牛磺胆酸共转运多肽缺陷病及其对母胎影响的研究进展

Research Progress on Sodium-Taurocholate Cotransporting Polypeptide Deficiency Disease and Its Impact on Mother and Fetus

钠离子牛磺胆酸共转运多肽(sodium-taurocholate cotransporting polypeptide,NTCP)缺陷病是一种溶质载体家族10成员1(solute carrier family 10 member 1,SLC10A1)双等位基因突变引起的胆汁酸代谢障碍性疾病,分布具有区域和种族差异,其中SLC10A1 c.800C>T(p.Ser267Phe)是我国的高频突变。NTCP缺陷病患儿主要表现为病理性黄疸,少部分有生长、运动和神经系统发育迟缓的表现,成年患者临床症状和体征不明显,生化检查提示血清总胆汁酸水平升高、部分伴有转氨酶和25-羟维生素D3水平降低。NTCP缺陷病性高胆汁酸血症需与乙型肝炎病毒感染、丁型肝炎病毒感染、自身免疫性肝炎及妊娠期肝内胆汁淤积症等鉴别,妊娠合并NTCP缺陷病性高胆汁酸血症对母胎的影响迄今少有相关报道。综述NTCP缺陷病的分子遗传机制、临床表现、实验室检查、诊断、治疗及其对母胎的影响,为该病患者的明确诊断和正确干预提供依据。

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.