Monogenic Kidney Stone - Genetic Testing

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Characterization of Monogenic Kidney Stone Diseases

Conditions
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Rare Kidney Stone Diseases

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Participants meet at least one of the following criteria: Patients <18yrs with a history of kidney stones, and/or nephrocalcinosis, OR Patients >18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following: Family history of stones or nephrocalcinosis or unexplained kidney failure Growth retardation Metabolic bone disease Unusual stone composition or pathologic or urinary crystals Proteinuria Reduced glomerular filtration rate (GFR) Hypomagnesemia or hypophosphatemia or hypercalcemia Increased oxalate Renal cysts, OR Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR 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 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 Family member of a patient that meets at least one of the above criteria Exclusion Criteria: Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases Unwilling or unable to provide consent/assent
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| symptomatic onset of monogenic stone disease | To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification. | 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotype markers | Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification. | 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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PH, Primary Hyperoxaluria (PH), Hyperoxaluria, PH 1, PH 2, PH 3, Dent Disease, Dent 1, Dent 2, Cystinuria, APRT Deficiency, 24-Hydroxylase Deficiency, CYP24A1