Defining the natural history and treatment options for Dent Disease

Dent病是一种罕见的X连锁遗传性肾病。由于其罕见性，疾病表达尚未得到证实。 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进行批判性评价。因此，本项目的主要目的是：1）为Dent病患者建立一个国际登记处。该自愿登记研究将由护理这些患者的医生（通常是肾脏科医生或泌尿科医生）或提供这些记录的患者提供的数据填充。有了这样一个登记处，我们希望招募足够多的患者，以实现以下额外的具体目标：2）通过收集与生化和临床数据相关的突变和多态性数据，包括从个体患者的纵向研究中获得的数据，来确定基因型和表型之间的相关性。3)为患者和医生提供有关牙科疾病的诊断、管理和结果的资源信息; 4)为每种疾病建立定义明确的患者队列; 5）为新研究提出假设。 一个登特病患者登记处将扩大知识的临床表现，这种疾病， 系统地积累和分析关于比迄今为止所研究的更多患者的信息。登记研究中的数据将有助于制定共识、循证诊断和管理指南。教育材料的传播将促进生物医学和患者社区对这种疾病的了解，并为评估、诊断和管理登特病患者提供资源。登记研究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病的病理生理学的理解，其与Lowe综合征的关系，并为其他研究产生假设。

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.