BILIARY ATRESIA RESEARCH CONSORTIUM (BARC): A PROSPECTIVE DATABASE OF INFANT

这个子项目是许多利用资源的研究子项目之一 由NIH/NCRR资助的中心拨款提供。次级项目的主要支助 子项目的主要研究者可能是由其他来源提供的， 包括其它NIH来源。 为子项目列出的总成本可能 代表子项目使用的中心基础设施的估计数量， NCRR赠款不直接向子项目或子项目工作人员提供资金。 摘要 假设 1. 环境/流行病学/遗传因素有助于儿童胆汁淤积性肝病的发病机制。 2. 超声检查对胆道闭锁的诊断有特异性。 3. 临床参数，如实验室检查值（如术后6个月的总胆红素）、各种临床结果（如腹水）的发展可预测2岁时加塞门肠吻合术的最终结局。 可根据系列临床（如生长障碍）或实验室检查值（如总胆红素）预测发育迟缓。 具体目标 具体目标1：建立一个关于婴儿胆汁淤积性疾病及其家庭的人口统计学和临床信息的前瞻性数据库。 具体目标2：建立这些儿童及其一级亲属的血液、尿液、胆汁和组织样本的储存库。 具体目标3：随着时间的推移，前瞻性地跟踪这些儿童，以描述疾病的自然史。 具体目标4：确定与不同胆汁淤积性疾病（特别是胆道闭锁）的发病、结局和治疗成功相关的风险因素（如环境、感染和遗传风险因素）。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. ABSTRACT HYPOTHESIS 1. Environmental/epidemiological/genetic factors contribute to the pathogenesis of cholestatic liver diseases in children. 2. Ultrasonographic findings at diagnosis are specific for the diagnosis of biliary atresia. 3. Clinical parameters, such as laboratory values, (e.g. total bilirubin at 6 months post-surgery), the development of various clinical findings (e.g. ascities), are predictive of the evantual outcome of the Kasai Portoenterostomy by 2 years of age. Developmental delay can be predicted based upon serial clinical (e.g. growth failure) or laboratory values (e.g. total bilirubin). SPECIFIC AIMS Specific Aim 1: To establish a prospective database with demographic and clinical information about infants with cholestatic disease and their families. Specific Aim 2: To establish repositories for blood, urine, bile, and tissue samples from these children and their first-degree relatives. Specific Aim 3: To prospectively follow these children over time to characterize the natural history of the disease. Specicic Aim 4: To identify risk factors (such as, environmental, infectious and genetic risk factors) related to onset, to outcome and to the success of treatment(s) for the different cholestatic diseases, with special emphasis on biliary atresia.