Abstract: INFO06-FR
Rare Kidney Stone Consortium: A Rare Disease Center of the NIDDK and Office of Rare Diseases Research
Session Information
- Informational Posters - II
November 08, 2019 | Location: Exhibit Hall, Walter E. Washington Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- No subcategory defined
Authors
- Lieske, John C., Mayo Clinic, Rochester, Minnesota, United States
- Goldfarb, David S., New York Harbor VAMC, New York, New York, United States
- Edvardsson, Vidar O., Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland
- Palsson, Runolfur, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland
- Sas, David J., Mayo Clinic, Rochester, Minnesota, United States
- Enders, Felicity T., Mayo Clinic, Rochester, Minnesota, United States
- Milliner, Dawn S., Mayo Clinic, Rochester, Minnesota, United States
- Harris, Peter C., Mayo Clinic, Rochester, Minnesota, United States
Description
Reduced kidney function occurs among patients with certain hereditary causes of kidney stone disease and/or nephrocalcinosis. Due to their rarity the diagnosis is often delayed. The spectrum of clinical expression, treatment efficacy, and possible genotype/phenotype correlations are poorly defined. Identification of well-characterized patient cohorts for clinical studies is a particular challenge. The Rare Kidney Stone Consortium (RKSC) was formed to advance understanding of disease expression and factors associated with renal injury in primary hyperoxaluria (PH), cystinuria, Dent disease, and adenine phosphoribosyltransferase (APRT) deficiency. More recently we have added other potential causes of nephrocalcinosis including enteric hyperoxaluria and CYP24A1 deficiency. The consortium aims to develop new treatment strategies to protect renal function and reduce nephrocalcinosis and stone formation.
Information sharing will improve patient care and outcomes by facilitating cooperative exchange of information among investigators, clinicians and patients. RKSC activities will increase disease awareness, provide readily available diagnostic testing, establish a biobank open to all interested investigators, and accrue collective data regarding patient treatments and outcomes.
Core services for RKSC diseases include:
Diagnostic testing for monogenic stone diseases, including genetic testing where appropriate using a 100+ candidate gene next generation sequencing panel
Patient registries
Biobanks
Ongoing clinical trials
Consultation with health care providers
Collaboration with the Oxalosis and Hyperoxaluria Foundation, International Cystinuria Foundation, APRT Deficiency Patient Support Network, and Dent Disease Foundation for patient education and engagement.
Rare Kidney Stone Consortium investigators are eager to establish new collaborations with investigators or groups interested in these diseases. For further consortium information or consultation regarding a specific patient please contact <a href="mailto:rarekidneystones@mayo.edu">rarekidneystones@mayo.edu</a>.
Funding
- NIDDK, NCAATS