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.
|Effective start/end date||9/8/09 → 6/30/14|
- National Institute of Diabetes and Digestive and Kidney Diseases: $239,436.00
- National Institute of Diabetes and Digestive and Kidney Diseases: $191,568.00
- National Institute of Diabetes and Digestive and Kidney Diseases: $212,474.00
- National Institute of Diabetes and Digestive and Kidney Diseases: $235,674.00
- National Institute of Diabetes and Digestive and Kidney Diseases: $225,810.00
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