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.
|Tang, Xiaojing; Lieske, John C (2014) Acute and chronic kidney injury in nephrolithiasis. Curr Opin Nephrol Hypertens 23:385-90|
|Meeusen, Jeffrey W; Lieske, John C (2014) Looking for a better creatinine. Clin Chem 60:1036-9|
|Lieske, John C; Collazo-Clavell, Maria L; Sarr, Michael G et al. (2014) Gastric bypass surgery and measured and estimated GFR in women. Am J Kidney Dis 64:663-5|
|Ali, Farah N; Falkner, Bonita; Gidding, Samuel S et al. (2014) Fibroblast growth factor-23 in obese, normotensive adolescents is associated with adverse cardiac structure. J Pediatr 165:738-43.e1|
|Fattah, Hasan; Hambaroush, Yasmin; Goldfarb, David S (2014) Cystine nephrolithiasis. Transl Androl Urol 3:228-233|
|Modersitzki, Frank; Pizzi, Laura; Grasso, Michael et al. (2014) Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers. Urolithiasis 42:53-60|
|Fervenza, Fernando C (2013) A patient with nephrotic-range proteinuria and focal global glomerulosclerosis. Clin J Am Soc Nephrol 8:1979-87|
|Lee, Hyo-Jung; Jeong, Soo-Jin; Lee, Hyo-Jeong et al. (2011) 1,2,3,4,6-Penta-O-galloyl-beta-D-glucose reduces renal crystallization and oxidative stress in a hyperoxaluric rat model. Kidney Int 79:538-45|
|Goldfarb, David S (2011) Potential pharmacologic treatments for cystinuria and for calcium stones associated with hyperuricosuria. Clin J Am Soc Nephrol 6:2093-7|
|Coe, Fredric L; Evan, Andrew; Worcester, Elaine (2011) Pathophysiology-based treatment of idiopathic calcium kidney stones. Clin J Am Soc Nephrol 6:2083-92|
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