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Kidney Week

Abstract: INFO31

Rare Kidney Stone Consortium, a Rare Disease Center of the NIDDK and Office of Rare Diseases Research

Session Information

  • Informational Posters
    October 25, 2018 | Location: Exhibit Hall, San Diego Convention Center
    Abstract Time: 10:00 AM - 12:00 PM


  • No subcategory defined


  • Milliner, Dawn S., Mayo Clinic, Rochester, Minnesota, United States
  • Lieske, John C., Mayo Clinic, Rochester, Minnesota, United States
  • Edvardsson, Vidar O., Landspital - The National University Hospital of Iceland, Reykjavik, Iceland
  • Goldfarb, David S., New York Harbor VAMC, Hastings on Hudson, New York, United States

Group or Team Name

  • Rare Kidney Stone Consortium

Reduced kidney function is a well described complication among patients with certain hereditary causes of kidney stone disease and/or nephrocalcinosis. However, due to their rarity, their diagnosis is often delayed since experienced care-givers are limited in most centers. Thus the spectrum of clinical expression, results of treatment, 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 the factors associated with renal injury in primary hyperoxaluria (PH), enteric hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase (APRT) deficiency (a cause of dihydroxyadenine stones). The overall goal of the consortium is the development of new treatment strategies directed at protecting renal function and reducing nephrocalcinosis and stone formation.

Sharing of information will improve patient care and outcomes by facilitating cooperative exchange of information among investigators, clinicians and patients. The RKSC activities will increase awareness of these diseases, provide readily available diagnostic testing, establish a biobank open to all interested investigators, and provide collective data regarding patient treatments and outcomes.

Core services available for PH, enteric hyperoxaluria, cystinuria, Dent disease and Lowe Syndrome, APRT deficiency and other monogenic stone diseases include:
Diagnostic testing for monogenic stone diseases, including genetic testing where appropriate
Patient registries
Pilot projects
Ongoing clinical trials
Consultation with health care providers
Research training in rare stone diseases
Collaboration with the Oxalosis and Hyperoxaluria Foundation, International Cystinuria Foundation, APRT Deficiency and DHA Crystalluria Advocacy Group, Dent Disease Foundation and Lowe Syndrome Association for patient education and engagement.The prospective cohorts of patients with each RKSC core disease are currently being established for long term followup studies.

Further consortium information is available at


  • NIDDK and Office of Rare Diseases Research