Emory Clinical Center: Childhood Liver Disease Research and Education Network

描述（由申请人提供）： 在儿童中，慢性肝病是一种罕见但具有破坏性的疾病。胆道闭锁是一种病因不明的疾病，是儿童肝移植的主要指征。与囊性纤维化相关的肝脏疾病发生在超过60%的囊性纤维化患者中，并且是囊性纤维化发病率和死亡率的主要促成因素。遗传性胆汁淤积性肝病，如Alagille综合征、进行性家族性肝内胆汁淤积症、线粒体肝病和囊性纤维化相关肝病，人们对其了解甚少，难以治疗，并且具有显著的临床变异性，导致显著的发病率和死亡率。目前，这些罕见疾病的病因和治疗的协调研究由胆道闭锁研究联盟（BARC）和胆汁淤积性肝病联盟（CLiC）组织。通过ChiLDREN形成统一和扩大的儿科肝病专家网络将提高了解这些毁灭性疾病并发现诊断，治疗和预防方式的能力。作为一个大型的，组织良好的儿科肝脏中心，在种族，民族和经济多样化的南部地区，埃默里-儿童肝脏中心将加强和提高儿童肝脏网络。在过去的10年里，埃默里肝脏中心开发了一个最先进的系统，包括长期临床随访护理的电子记录，该地区700多名肝病和儿科肝移植患者的综合数据库，创新的身体磁成像，以及在去年建立了一个生物储存库，现在包含50多个儿科肝活检标本。主要研究者和合作研究者与亚特兰大囊性纤维化中心的儿童保健密切合作。PI拥有开展合作项目的经验，专业知识和基础设施，并将为这个创新的研究和教育网络，ChiLDREN做出重大贡献。 相关性：ChiLDREN将改善患有胆道闭锁、胆汁淤积性肝病和囊性纤维化相关肝病的儿童的生活。

DESCRIPTION (provided by applicant): In children, chronic liver disease is a rare but devastating condition. Biliary atresia is a disease of unknown etiology and is the primary indication for liver transplantation in children. Liver disease associated with cystic fibrosis occurs in over 60% of cystic fibrosis patients and is a major contributing factor to morbidity and mortality in cystic fibrosis. Genetic cholestatic liver diseases, such as alagille syndrome, progressive familial intrahepatic cholestasis, mitochondrial hepatopathies and cystic fibrosis associated liver disease are poorly understood and difficult to treat and have significant clinical variability leading to significant morbidity and mortality. Presently, the coordinated study of the etiology and treatment of these rare diseases are organized by the Biliary Atresia Research Consortium (BARC) and the Cholestatic Liver Disease Consortium (CLiC). The formation of a unified and expanded network of pediatric liver disease experts through ChiLDREN will enhance the ability to understand these devastating diseases and discover diagnostic, therapeutic and preventive modalities. As a large, well-organized pediatric liver center in a racially, ethnically and economically diverse region of the South, the Emory- Children's Liver Center will strengthen and enhance the ChiLDREN network. Over the past 10 years, the Emory Liver Center has developed a state-of- the-art system that includes an established electronic record of long term clinical follow up care, a comprehensive database of over 700 hepatology and pediatric liver transplant patients in the region, innovative body magnetic imaging and, in the last year, the establishment of a biorepository now containing over 50 pediatric liver biopsy specimens. The primary Investigator and co-investigators collaborate closely with the Children's Healthcare of Atlanta Cystic Fibrosis Center. The PI has the experience, expertise and infrastructure to carry out collaborative projects and will make substantial contributions to this innovative research and education network, ChiLDREN. Relevance: ChiLDREN will improve the lives of children with biliary atresia, cholestatic liver diseases and cystic fibrosis associated liver disease.