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毁灭性的疾病。胆道闭锁是一种病因不明的疾病，是儿童肝移植的主要适应症。囊性纤维化相关的肝病发生在超过60%的囊性纤维化患者中，是囊性纤维化发病率和死亡率的主要因素。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性肝病，目前对其认识较少，治疗难度大，临床变异性大，导致发病率和死亡率显著升高。目前，对这些罕见疾病的病因和治疗的协调研究是由胆道闭锁研究联盟(BARC)和胆汁淤积性肝病联盟(CLIC)组织的。通过儿童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。作为南方种族、民族和经济多元化地区的一家组织严密的大型儿科肝脏中心，埃默里儿童肝脏中心将加强和加强儿童网络。在过去的10年里，埃默里肝脏中心开发了一套最先进的系统，其中包括已建立的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，创新的体磁成像，以及去年建立的生物库，目前包含50多份儿科肝活检标本。主要研究人员和合作研究人员与亚特兰大囊性纤维化中心儿童医疗保健密切合作。国际儿童基金会拥有开展合作项目的经验、专业知识和基础设施，并将为儿童这个创新的研究和教育网络做出实质性贡献。 相关性：儿童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.