What is the RKSC?
Four inborn errors of metabolism lead to high concentrations of mineral salts in the urine and severe, recurrent nephrolithiasis. Patients with primary hyperoxaluria (PH), cystinuria, APRT deficiency (dihydroxyadeninuria, DHA), and Dent's disease experience stones beginning in childhood. Deposition of crystals in kidney tissue and loss of kidney function is observed in all Disease expression varies widely. Some PH patients, for example, progress to end stage renal failure during infancy, while others maintain kidney function until middle age. This variability is poorly understood. Modifiers of disease expression, if identified, offer promise as potential new treatment strategies, yet progress toward effective treatment has been slow. Small numbers of widely scattered patients make study of disease difficult. The ability to test new treatments is limited since few patients are available for clinical trials.
To address this problem, we will build on previous, successful work of the International Primary Hyperoxaluria Registry to establish secure, web-based registries and tissue banks for cystinuria, APRT deficiency, and Dent disease. An outstanding consortium of clinical scientists with unique expertise and access to patients with these diagnoses will address this work. Multidisciplinary collaboration will occur through joint activities with the Oxalosis and Hyperoxaluria Foundation and the International Cystinuria Foundation, regular communications among Consortium members, and open sharing of resources with patients, members of the medical community and scientists.