CORE--ARPKD CLINICAL AND GENETIC RESOURCE

常染色体隐性遗传性多囊肾病(ARPKD；MIM 263200)是一种相对罕见的疾病，大约每20,000名活产儿中就有1名发生。因此，没有一个中心有足够的患者进行足够的临床研究、基因研究和/或治疗试验。基于已建立的北美ARPKD数据库和我们在隐性PKD基因突变分析方面的丰富经验，包括PKHD1， 这个核心：ARPKD临床和遗传资源的目标是为ARPKD开发一套独特的临床、遗传和教育资源。这一目标将在三个具体目标中实施。目标1-利用已建立的北美ARPKD数据库建立一个全面的临床数据库，其中包括符合ARPKD纳入标准的所有患者。AIM 2-典型ARPKD儿童，以及罕见的隐性遗传 小鼠隐性PKD基因的PKHD1和/或人类同源基因突变的PKD表型，并开发突变数据库。这个数据库将能够以可搜索的形式将临床和突变信息联系起来，以促进遗传分析(例如，基因-表型相关性、修饰基因研究)、翻译研究和临床试验。目标3-创建一个基于网络的多媒体资源，名为《理解ARPKD》。这一目标将解决ARPKD家庭、他们的医生和遗传顾问目前可获得的可靠信息来源不足的问题。这一核心的显著特点是，它建立在UAB已有的临床、基因分型和教育计划的基础上。通过P30机制，该核心将向更广泛的社区提供这些重要资源 感兴趣的调查人员、ARPKD家庭和医生/医疗保健提供者。

Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a relatively rare disorder, occurring in approximately 1 in 20,000 live births. Therefore, no single Center has sufficient patients for adequately powered clinical studies, genetic investigations, and/or therapeutic trials. Building on the established North American ARPKD Database and our extensive experience with mutational analysis of recessive PKD genes, including PKHD1, the objective of this Core: the ARPKD Clinical and Genetic Resource is to develop a unique set of clinical, genetic, and educational resources for ARPKD. This objective will be implemented in three specific aims. AIM 1 - Leverage the established North American ARPKD Database to build a comprehensive Clinical Database that includes all patients who meet the inclusion criteria for ARPKD. AIM 2 - Genotype children with classic ARPKD, as well as unusual recessive PKD phenotypes, for mutations in PKHD1 and/or the human orthologues of mouse recessive PKD genes and develop a Mutational Database. This Database will be capable of linking clinical and mutational information in a searchable format to facilitate genetic analyses (e.g. genotype-phenotype correlations, modifier gene studies), translational studies, and clinical trials. AIM 3 - Create a multi-media, web-based resource called "Understanding ARPKD". This Aim will address the paucity of reliable sources of information currently available to ARPKD families, their physicians, and genetic counselors. The distinctive feature of this Core is that it builds on clinical, genotyping, and educational programs already in place at UAB. Through the P30 mechanism, this Core will make these important resources available to the broader community of interested investigators, ARPKD families, and physicians/healthcare providers.