Monogenic Kidney Stone - Genetic Testing

Overview

About this study

90 genes related to Monogenic Stone Disease will be determined via DNA analysis by the Mayo Rare Kidney Stone Consortium (RKSC) research staff.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

Participants meet at least one of the following criteria:

  1. Patients <18yrs with a history of kidney stones, and/or nephrocalcinosis, OR
  2. Patients >18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
    1. Family history of stones or nephrocalcinosis or unexplained kidney failure
    2. Growth retardation
    3. Metabolic bone disease
    4. Unusual stone composition or pathologic or urinary crystals
    5. Proteinuria
    6. Reduced glomerular filtration rate (GFR)
    7. Hypomagnesemia or hypophosphatemia or hypercalcemia
    8. Increased oxalate
    9. Renal cysts, OR
  3. Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR
  4. Patients previously enrolled in the RKSC6406 protocol (identified as legacy samples), "Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
  5. Patients previously enrolled in the RKSC6403 protocol (identified as legacy samples), "Screening for Dent Disease Mutations in Patients with Proteinuria or Hypercalciuria and Calcium Urolithiasis." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
  6. Family member of a patient that meets at least one of the above criteria

Exclusion Criteria:

  1. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases
  2. Unwilling or unable to provide consent/assent

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

David Sas, D.O.

Open for enrollment

Contact information:

Mayo Clinic Hyperoxaluria Center

(800) 270-4637

hyperoxaluriacenter@mayo.edu

More information

Publications

Publications are currently not available