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

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。 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. 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. 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.