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The RKSC is an organization of diverse participants
and independent efforts representing
four major diseases of hereditary nephrolithiasis.
Home.
Our Diseases of Focus
Our diseases of focus.
Rare
Kidney
Stone
Consortium
Adenine phosphoribosyltransferase deficiency (APRT-D) is a very rare condition that causes crystals and stones to form in the kidneys. 
Cystinuria is an inherited condition that prevents the body’s normal processing of an amino acid named “cystine” which can form rock hard cystine kidney stones.
A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. 2 subtypes: Dent 1 (CLCN5) and
Dent 2 (OCRL1).
A group of rare genetic metabolic disorders (PH types I, II, and III – differentiated by the specific enzyme that is deficient) that are characterized by the accumulation of a substance known as oxalate in the kidneys and other organ systems of the body.
Our mission.
Our Mission
The Consortium facilitates cooperative exchange of information and resources among investigators, clinicians, and patients, and researchers in order to improve care and outcomes for patients with rare stone diseases. The consortium promotes ready availability of diagnostic testing, pooling of clinical experiences, and availability of tissue banks in order to advance the science.
Our Goals
Our goals:Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledgeStimulate generation of testable hypotheses regarding mechanisms of renal injury in these diseases through registry findings, tissue resources, and pilot projectsDevelop cohorts of well-characterized patients for future clinical studiesAttract and train investigators to rare diseases research in nephrology
Our Administration
Director
John C. Lieske, M.D. | bio
Executive Committee
Felix Knauf, MD | bio
David Sas, MD | bio
David Goldfarb, MD | bio
Vidar Edvardsson MD | bio
Mira Keddis, MD | bio
Kyle Wood, MD | bio
Matthew Breeggemann, MD | bio
Mathieu Lemaire, MD | bio
Greg Tasian, MD | bio
Kim Hollander | bio
Jill Goodrich | bio
Jennifer Meyer, RN | bio
Our administration.
Our goals.
Our partners.
Our Partners
Contact us.
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