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名活产婴儿中就有1例发生。因此，没有一个中心有足够的患者进行充分把握度的临床研究、遗传学研究和/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（包括PKHD 1）突变分析方面的丰富经验， 本核心的目标：ARPKD临床和遗传资源是为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现。目的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，其中包括所有符合ARPKD入选标准的患者。目的2 -基因型儿童与经典的ARPKD，以及不寻常的隐性 PKD表型，用于PKHD 1和/或小鼠隐性PKD基因的人类直系同源物中的突变，并开发突变数据库。该数据库将能够以可搜索的格式链接临床和突变信息，以促进遗传分析（例如基因型-表型相关性、修饰基因研究）、翻译研究和临床试验。目标3 -创建一个多媒体，基于网络的资源，称为“了解ARPKD”。这一目标将解决目前ARPKD家庭、他们的医生和遗传咨询师缺乏可靠信息来源的问题。该核心的显着特点是，它建立在临床，基因分型和教育计划已经在UAB的地方。通过P30机制，该核心将使这些重要资源可供更广泛的社区使用， 感兴趣的研究者、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.