Characterization of Monogenic Kidney Stone Diseases
Mayo Clinic
Summary
This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.
Description
Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell collection for DNA or RNA isolation • Complete a kidney stone history questionnaire In addition to the above testing, family members may be asked to participate in the following: • Complete a 24 hr. urine collection Your samples will undergo genetic testing. We will share the results with your local doctor. All family members, of a patient whose genetic testing showed no known mutations, will not be tested. These samples will be stored for future research.
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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…
Location
- Mayo ClinicRochester, Minnesota