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).
Ready availability of diagnostic testing, pooling of data from patient experience, availability of tissue banks open to all investigators and a consortium for cooperative exchange of information among investigators, clinicians, and patients, and sharing of resources among researchers, will improve care and outcomes for patients with rare stone diseases and advance the science.
| Goldfarb, David S (2018) Empiric therapy for kidney stones. Urolithiasis : |
| Thorsteinsdottir, Margret; Thorsteinsdottir, Unnur A; Eiriksson, Finnur F et al. (2018) Corrigendum to ""Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency"" [J. Chromatogr. B 1036-1037 (2016) 170-177]. J Chromatogr B Analyt Technol Biomed Life Sci 1092:530 |
| Shah, Ronak Jagdeep; Lieske, John C (2018) Inching toward a Greater Understanding of Genetic Hypercalciuria: The Role of Claudins. Clin J Am Soc Nephrol 13:1460-1462 |
| Tasian, Gregory E; Jemielita, Thomas; Goldfarb, David S et al. (2018) Oral Antibiotic Exposure and Kidney Stone Disease. J Am Soc Nephrol 29:1731-1740 |
| Policastro, Lucas J; Saggi, Subodh J; Goldfarb, David S et al. (2018) Personalized Intervention in Monogenic Stone Formers. J Urol 199:623-632 |
| Nazzal, Lama; Blaser, Martin J (2018) Does the Receipt of Antibiotics for Common Infectious Diseases Predispose to Kidney Stones? A Cautionary Note for All Health Care Practitioners. J Am Soc Nephrol 29:1590-1592 |
| Runolfsdottir, Hrafnhildur Linnet; Palsson, Runolfur; Agustsdottir, Inger MSch et al. (2018) Long-term renal outcomes of APRT deficiency presenting in childhood. Pediatr Nephrol : |
| Dhondup, T; Lorenz, E C; Milliner, D S et al. (2018) Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. Am J Transplant 18:253-257 |
| Fargue, Sonia; Milliner, Dawn S; Knight, John et al. (2018) Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria. J Am Soc Nephrol 29:1615-1623 |
| Lieske, John C (2018) Bariatric Surgery and Kidney Health. J Am Soc Nephrol 29:1085-1086 |
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