BILIARY ATRESIA STUDY IN INFANTS AND CHILDREN (BASIC)

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 胆道闭锁研究联盟（BARC）是一个由NIH资助的网络，由10个临床站点和一个数据协调中心组成，其目标是研究婴儿的胆道闭锁，新生儿肝炎和其他胆汁淤积性疾病。 胆道闭锁（BA）是一种进行性坏死性炎症过程，最初累及肝外胆道系统。 随着疾病的进展，管腔的通畅性丧失，胆汁流动受阻。 结果是胆汁淤积和慢性肝损伤。随着时间的推移，肝内胆管系统开始受累。 BA发生在8- 15，000活产中的1例，导致美国每年有250-400例新发病例。 如果不治疗，这种疾病会导致完全性胆道梗阻伴肝硬化，并且是致命的。 在肝门肠吻合术（加塞手术）后，儿童的疾病进展不一，不到20%的儿童在没有肝移植的情况下存活超过十几岁。 关于引起胆道闭锁的因素和影响疾病进展的因素知之甚少。 各种遗传、自身免疫和环境影响被认为是重要的。 迄今为止，大多数研究都集中在新生儿和幼儿与BA，但年龄较大的幸存儿童与BA可以提供有关遗传学的重要信息，以及，自然史。 该项目建议开发一个数据库，其中包含适当的临床信息，遗传物质和从BA儿童和年轻成人获得的体液样本，以解决旨在确定遗传和临床对病因和结果的影响的假设。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The Biliary Atresia Research Consortium (BARC) is an NIH-funded network of ten clinical sites and a data coordinating center whose goal is to study biliary atresia, neonatal hepatitis and other cholestatic diseases in the infant. Biliary atresia (BA) is a progressive necroinflammatory process initially involving the extrahepatic biliary tree. As the disease progresses, there is loss of patency of the lumen and obstruction to bile flow. The result is cholestasis and chronic liver damage. With time, the intrahepatic biliary system becomes involved. BA occurs in one in 8-15,000 live births resulting in 250-400 new cases per year in the US. Untreated, the disease leads to complete biliary obstruction with cirrhosis, and is uniformly fatal. After a hepatoportoenterostomy (Kasai procedure), children have a variable disease progression with less than 20% surviving beyond the teen years without liver transplantation. Little is known about the factors that cause biliary atresia nor the factors that influence disease progression. A variety of genetic, autoimmune and environmental influences have been hypothesized to be important. Most studies to date have focused on the neonate and young child with BA, yet the older surviving child with BA can provide important information about genetics, as well as, natural history. This project proposes to develop a database that contains appropriate clinical information, genetic material and body fluid samples obtained from children and young adults with BA to address hypotheses aimed to identify genetic and clinical influences on etiology and outcome.