进行性家族性肝内胆汁淤积症2例临床特点分析及文献复习

Clinical characteristics of 2 cases of progressive familial intrahepatic cholestasis and literature review

婴儿胆汁淤积症是指1岁以内由各种原因引起的肝细胞和(或)毛细胆管分泌功能障碍,或胆管病变导致胆汁进入十二指肠内减少,在肝细胞和胆管内胆汁淤积引起的肝脏疾病。进行性家族性肝内胆汁淤积症(progressive familial intrahepatic cholestasis,PFIC)是一组常染色体隐性遗传病,以严重肝内胆汁淤积为特点,部分患者病情进展迅速,可在儿童期或青春期进展成肝硬化或肝衰竭。本文共报道2例PFIC患儿,患儿均表现为婴儿早期出现的低γ-谷氨酰转移酶(gamma-glutamyl transferase,GGT)胆汁淤积,肝功能均提示转氨酶、胆汁酸及胆红素升高,但PFIC 2型患儿的转氨酶、甲胎蛋白升高更显著。对2例患儿进行随访,PFIC 1型患儿病情进展缓慢,而PFIC 2型病情进展更快,早期即出现肝衰竭,积极予以血浆置换等治疗仍无明显好转,予肝移植后并发严重感染、多脏器功能衰竭,最终死亡。

Infantile cholestasis refers to the dysfunction of secretion of hepatocytes and(or)bile canaliculi caused by various reasons,or the reduction of bile into the duodenum caused by bile duct lesions,and the cholestasis in hepatocytes and bile ducts within 1 year of age.Progressive familial intrahepatic cholestasis(PFIC)is a group of autosomal recessive diseases characterized by severe intrahepatic cholestasis,which progresses rapidly in part of patients.Cirrhosis or liver failure may progress in childhood or adolescence.Two cases of PFIC children were reported,both children showed low gamma glutamyl transferase(GGT)cholestasis in early infancy,and were with elevated aminotransferase,bile acid and bilirubin,the elevated aminotransferase andα-fetoprotein were more significant in PFIC type 2 children.After follow-up of two children,child with type 1 PFIC progressed slowly,while type 2 PFIC progressed faster and with liver failure in the early stage,after active plasma exchange and other treatment,the child had no significant improvement.After liver transplantation,the child developed severe infection,multiple organ failure,and eventually died.