先天性胆道闭锁的早期诊断研究进展

先天性胆道闭锁是新生儿胆汁淤积症最常见的病因，也是小儿肝移植的主要指征，如果不及时诊治，可导致患儿进行性肝纤维化、胆汁淤积性肝硬化甚至死亡。目前普遍认为及时行Kasai术或肝移植可明显改善先天性胆道闭锁患儿预后，因此其早期鉴别诊断极其重要。然而，先天性胆道闭锁与其他原因引起的新生儿胆汁淤积症早期在临床表现、实验室检查以及影像学特征方面存在着诸多共同点，给临床鉴别诊断带来极大困难。过去的十年里，各种无创性检查诊断先天性胆道闭锁取得了很大进展，包括早期筛查，特征性生物标志物的研发，超声检查定性、定量指标的完善，放射性核素肝胆动态显像价值所在的明确，经内镜逆行胰胆管造影术及磁共振胰胆管造影应用的探索等。但目前临床上尚无一种同时具有高敏感性和特异性的无创性早期鉴别诊断先天性胆道闭锁的方法。术中胆道探查、造影仍是目前诊断先天性胆道闭锁的最准确的方法，但该法的有创性及对术者的高要求限制了其在临床上的应用。本综述在阐述临床常用早期鉴别诊断先天性胆道闭锁方法特点的基础上，进一步探索了多学科、多技术联合应用早期鉴别诊断先天性胆道闭锁的最佳策略，为提高先天性胆道闭锁早期鉴别诊断的敏感性、特异性提供参考。 

Progress in early diagnosis of congenital biliary atresia

Congenital biliary atresia is the most common cause of neonatal cholestasis and is the main indicator of paediatric liver transplantation. If not treated promptly, it can lead to progressive liver fibrosis, cholestasis cirrhosis and even death. Timely Kasai surgery or liver transplantation can significantly improve the prognosis of children with congenital biliary atresia, so early differential diagnosis is extremely important. However, congenital biliary atresia and other causes of neonatal cholestasis have many common points in clinical manifestations, laboratory tests and imaging features, which brings great difficulties to clinical differential diagnosis. In the past decade, various non-invasive diagnosis approach for congenital biliary atresia has made great progress, including the development of early screening, features of biomarkers, improved inspection of qualitative and quantitative indicators of ultrasound, and the applications of radionuclide hepatobiliary dynamic imaging, endoscopic retrograde cholangiopancreatography (ERCP) and magnetic resonance cholangiopancreatography (MRCP). Currently though, no clinically non-invasive method is available for the differential diagnosis of congenital biliary atresia with high sensitivity and specificity. Intraoperative biliary exploration and angiography remain the most accurate methods for diagnosing congenital biliary atresia, but the invasiveness of the method and the high requirements for the surgeon limit its clinical application. Based on the characteristics of early clinical early differential diagnosis of congenital biliary atresia, this review further explores the best strategy for early diagnosis and diagnosis of congenital biliary atresia by multidisciplinary and multi-technical combination to improve the early differential diagnosis of congenital biliary atresia. This review provides reference for promoting the sensitivity and specificity of the early differential diagnosis of congenital biliary atresia.