Bates M D, Bucuvalas J C, Alonso M H, Ryckman F C
Division of Pediatric Gastroenterology and Nutrition, Childrens Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Semin Liver Dis. 1998;18(3):281-93. doi: 10.1055/s-2007-1007164.
Biliary atresia is a disorder of infants in which there is obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure. Biliary atresia has an incidence of approximately one in 10,000 live births worldwide. Evidence to date supports a number of pathogenic mechanisms for the development of biliary atresia. An infectious cause, such as by a virus, would seem most pausible in many cases. The clinical observation that biliary atresia is rarely encountered in premature infants would support an agent acting late in gestation. However, no infectious or toxic agent has been conclusively implicated in biliary atresia. Genetic mechanisms likely play important roles, even regarding susceptibility to other specific causes, but no gene whose altered function would result in obstruction or atresia of the biliary tree has been identified. The variety of clinical presentations support the notion that the proposed mechanisms are not mutually exclusive but may play roles individually or in combination in certain patients. Biliary atresia, when untreated, is fatal within 2 years, with a median survival of 8 months. The natural history of biliary atresia has been favorably altered by the Kasai portoenterostomy. Approximately 25 to 35% of patients who undergo a Kasai portoenterostomy will survive more than 10 years without liver transplantation. One third of the patients drain bile but develop complications of cirrhosis and require liver transplantation before age 10. For the remaining one third of patients, bile flow is inadequate following portoenterostomy and the children develop progressive fibrosis and cirrhosis. The portoenterostomy should be done before there is irreversible sclerosis of the intrahepatic bile ducts. Consequently, a prompt evaluation is indicated for any infant older than 14 days with jaundice to determine if conjugated hyperbilirubinemia is present. If infectious, metabolic, endocrine disorders are unlikely and if the child has findings consistent with biliary atresia, then exploratory laparotomy and intraoperative cholangiogram should be done expeditiously by a surgeon who has experience doing the Kasai portoenteostomy. Biliary atresia represents the most common indication for pediatric liver transplantation, representing more than 50% of cases in most series. Transplantation is indicated when symptoms of end stage liver disease occur, including recurrent cholangitis, progressive jaundice, portal hypertension complications, ascites, decreased synthetic function, and growth/nutritional failure.
胆道闭锁是一种婴儿疾病，其肝外胆道系统闭塞或中断，导致胆汁流动受阻。若不治疗，由此产生的胆汁淤积会导致进行性结合胆红素血症、肝硬化和肝衰竭。全球范围内，胆道闭锁的发病率约为每10000例活产中有1例。迄今为止的证据支持多种导致胆道闭锁的致病机制。在许多情况下，诸如病毒感染等感染性病因似乎最为合理。临床上观察到早产儿很少患胆道闭锁，这支持了一种在妊娠后期起作用的病原体。然而，尚无感染性或毒性因子被确凿地认为与胆道闭锁有关。即使在对其他特定病因的易感性方面，遗传机制可能也起着重要作用，但尚未发现其功能改变会导致胆管阻塞或闭锁的基因。各种临床表现支持这样一种观点，即所提出的机制并非相互排斥，而是可能在某些患者中单独或联合起作用。未经治疗的胆道闭锁在2年内会导致死亡，中位生存期为8个月。Kasai肝门空肠吻合术已改善了胆道闭锁的自然病程。接受Kasai肝门空肠吻合术的患者中，约25%至35%在不进行肝移植的情况下能存活超过10年。三分之一的患者胆汁引流，但出现肝硬化并发症，需在10岁前进行肝移植。对于其余三分之一的患者，肝门空肠吻合术后胆汁流量不足，儿童会出现进行性纤维化和肝硬化。肝门空肠吻合术应在肝内胆管出现不可逆硬化之前进行。因此，对于任何14天以上出现黄疸的婴儿，应立即进行评估，以确定是否存在结合胆红素血症。如果不太可能是感染、代谢、内分泌疾病，且儿童有与胆道闭锁相符的表现，那么有Kasai肝门空肠吻合术经验的外科医生应迅速进行剖腹探查和术中胆管造影。胆道闭锁是儿童肝移植最常见的指征，在大多数系列中占病例的50%以上。当出现终末期肝病症状时，包括复发性胆管炎、进行性黄疸、门静脉高压并发症、腹水、合成功能下降以及生长/营养衰竭，就需要进行移植。
