Nephrolithiasis and Kidney Failure: the Rare Kidney Stone Consortium

描述（由申请人提供）：遗传性肾结石，引起不溶性矿物质的明显排泄，导致儿童期复发性结石和慢性肾脏疾病的风险。因此，罕见肾结石联盟（RKSC）于5年前成立，旨在推进原发性高血氧症、胱氨酸尿症、Dent病和腺嘌呤磷酸核糖基转移酶缺乏症的治疗。安全的、基于网络的登记和组织库已经建立，并对合作项目开放。RKSC提供现成的疾病信息、诊断测试、初步研究的假设以及临床试验的良好特征患者群体。与每一种疾病的患者倡导团体（PAGs）建立伙伴关系，使信息能够在患者、家属和当地医生之间迅速传播。最近，我们与PAGs一起在纽约、伦敦和明尼苏达州罗切斯特成功举办了患者和家庭教育日。我们扩大了对年轻研究人员的培训和研究机会，并成功地指导他们从事罕见病研究。这次RKSC更新的主要目标是扩大我们成功的基础。具体目标是：(1)将患者和pag作为RKSC的研究伙伴进行整合和参与，以改善疾病结果。(2)识别有进行性肾功能丧失风险的患者。(3)明确肾损伤途径。(4)为潜在的先导研究确定新的治疗靶点。RKSC将通过4个相互关联的项目来实现这些目标，每个项目都以疾病过程为中心。一个关键组成部分将是安全的基于网络的患者数据库，用于支持组织库项目和适当的临床研究。我们将利用我们成功的注册系统，在这个资助周期内对潜在的队列建立积极的跟踪。纵向数据收集将进一步定义每种疾病的自然史、生活质量和炎症生物特征。RKSC的成功得到了我们的附属pag和机构在这个周期内对我们项目的大量共同资助（198,500美元/年）的认可。

DESCRIPTION (provided by applicant): Hereditary forms of nephrolithiasis that cause marked excretion of insoluble minerals lead to recurring stones from childhood and risk for chronic kidney disease. Therefore, the Rare Kidney Stone Consortium (RKSC) was formed 5 years ago to advance the care of primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency. Secure, web-based registries and tissue banks have been established and are open for collaborative projects. The RKSC provides readily available disease information, diagnostic testing, hypotheses for pilot studies, and well-characterized patient groups for clinical trials. Partnerships with patient advocacy groups (PAGs) for each of the diseases allows rapid spread of information among patients, families, and local physicians. Together with our PAGs we recently hosted successful patient and family education days in New York, London, and Rochester, MN. We have expanded training and research opportunities for young investigators, and successfully directed them to rare diseases research. The primary goal of this RKSC renewal is to expand our successful base. Specific aims are: (1) Integrate and engage patients and PAGs as research partners of the RKSC to improve disease outcomes. (2) Identify patients at risk of progressive loss of kidney function. (3) Identify pathways of kidney injury. (4) Identify novel therapeutic targets for potential pilot studies. The RKSC will pursue these goals in 4 interlinked projects, each centered around a disease process. A key component will be secure web-based patient databases used to support tissue bank programs and appropriate clinical studies. We will leverage our successful registries to establish active follow-up of prospective cohorts in this funding cycle. Longitudinal data collection will further define the natural history, quality of life, and inflammatory biosignature f each disease. The RKSC success has been recognized with significant co-funding of our programs by our affiliated PAGs and institutions this cycle ($198,500 +/year).