Defining the natural history and treatment options for Dent Disease

齿状神经病是一种罕见的X连锁遗传性肾病。由于它的罕见，疾病的表现一直没有 定义明确的病理生理学进展缓慢，几乎没有机会对治疗干预措施进行批判性评估。因此，该项目的主要目标是：1)为齿状神经病患者建立一个国际登记系统。这个自愿登记的数据将由照顾这些患者的医生提供，通常是肾脏科医生或泌尿科医生，或者将提供这些记录的患者提供的数据。有了这样的登记，我们希望招募足够多的患者来实现以下额外的具体目标：2)通过收集与生化和临床数据有关的突变和多态数据，包括从个别患者的纵向研究中获得的数据，确定基因和表型之间的相关性。3)为患者和医生提供有关Dent病的诊断、治疗和结果的资源信息； 4)为每种疾病建立明确的患者队列；5)为新的研究产生假设。 Dent病患者登记将通过以下方式扩大对该疾病临床表现的了解 系统地积累和分析关于比迄今为止所研究的更多的患者的信息。登记册中的数据将为诊断和管理制定协商一致、以证据为基础的指南。传播教育材料将促进生物医学和患者社区对这种疾病的了解，并为齿状神经病患者的评估、诊断和管理提供资源。该登记将确定临床试验的患者队列。最后，通过登记收集的数据和材料将促进研究，以提高对Dent病的病理生理学及其与Lowe综合征的关系的了解，并为进一步的研究产生假设。

Dent disease is a rare X-linked hereditary nephropathy. Due to its rarity, disease expression has not been well defined, progress defining pathophysiology has been slow, and there has been little opportunity to critically evaluate treatment interventions. Therefore, the primary aim of this project is to 1) Develop an international registry for patients with Dent disease. This voluntary registry will be populated with data provided by physicians who care for these patients, usually nephrologists or urologists, or by patients who will supply these records. With such a registry in place we hope to enroll sufficiently large numbers of patients to accomplish the following additional Specific Aims: 2) Identify correlations between genotype and phenotype by collecting data on mutations and polymorphisms in relation to biochemical and clinical data, including that obtained from longitudinal studies of individual patients.; 3) Provide resource information for patients and physicians regarding the diagnosis, management, and outcomes of Dent disease; 4) Establish well-defined patient cohorts for each disease; 5) Generate hypotheses for new research. A Dent disease patient registry will expand knowledge of the clinical expression of this disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date. Data in the registry will allow development of consensus, evidence-based guidelines for diagnosis and management. Dissemination of educational materials will promote understanding of the disease in biomedical and patient communities, and provide resources for the evaluation, diagnosis and management of Dent disease patients. The registry will identify patient cohorts for clinical trials. Finally, the data and materials collected through the registry will promote research to improve understanding of the pathophysiology of Dent disease, its relationship to Lowe syndrome, and generate hypotheses for additional studies.