BILIARY ATRESIA STUDY (BASIC)

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 胆道闭锁(BA)是一种累及胆道的进行性炎症过程。随着疾病的发展，管腔失去通畅性，胆汁流动受阻。在美国，每8-15,000名活产儿中就有一名患有BA，导致每年250-400例新病例。如果不治疗，这种疾病会导致完全的胆道梗阻和肝硬变，并且通常是致命的。肝门肠吻合术(Kasai手术)后，儿童有不同的疾病进展，只有不到20%的儿童在没有肝移植的情况下存活到十几岁。引起胆道闭锁的因素或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。到目前为止，大多数研究都集中在患有BA的新生儿和幼儿身上，但患有BA的较大存活儿童可以提供关于遗传学和自然历史的重要信息。本研究的目的是收集大龄婴儿、儿童和成人胆道闭锁的相关临床信息、遗传物质和体液样本。

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. Biliary atresia (BA) is a progressive inflammatory process involving the biliary tree. As the disease progresses, there is loss of patency of the lumen and obstruction to bile flow. 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. The purpose of this study is to collect the pertinent clinical information, genetic material and body fluid samples obtained from older infants, children and adults with biliary atresia.