Monogenic Kidney Stone - Genetic Testing

Overview

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

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 Rare Kidney Stone Consortium 6406 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 Rare Kidney Stone Consortium 6403 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