Rare Kidney Stone Consortium Biobank

Launched by MAYO CLINIC · Dec 31, 2013

Keywords

ClinConnect Summary

The Rare Kidney Stone Consortium Biobank trial is designed to collect samples from patients with specific kidney conditions, including primary hyperoxaluria, Dent disease, APRT deficiency, and cystinuria, as well as their family members. The goal is to gather these samples for future research that could help improve understanding and treatment of these conditions. If you or a family member has been diagnosed with one of these conditions and meets certain criteria, you may be eligible to participate in this study.

Eligible participants might include those with confirmed diagnoses through tests like liver biopsies or genetic analyses, as well as relatives of patients with these conditions. If you join the study, you will be asked to provide samples such as urine or blood, which researchers will use to learn more about these diseases. This research could one day lead to better treatment options or new ways to manage these conditions. Your participation could play an important role in advancing medical knowledge that benefits others facing similar health challenges.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• * Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria:
• • 1. Liver biopsy documenting alanine-glyoxylate aminotransferase (AGT) activity below the normal reference range confirming PH type 1 OR Liver biopsy documenting glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) activity below the normal reference range confirming PH type 2
• • 2. Molecular genetic analysis (DNA testing) confirming mutations known to cause PH type 1, PH type 2, or PH type 3
• • 3. Urinary oxalate excretion of greater than 0.8 mmol/1.73 m2/day (\>70 mg/1.73 m2/day) in the absence of a identifiable causes of secondary hyperoxaluria, including gastrointestinal disease known to cause enteric hyperoxaluria
• • 4. A patient in end stage kidney failure, in whom neither a liver biopsy nor mutational analysis are available must have: (a) A plasma oxalate concentration of greater than 60 umol/L and a kidney biopsy confirming extensive oxalate deposits OR (b) Evidence of systemic oxalosis
• • 5. Participants in the previous protocol "Tissue Bank of Urine, Blood, and Tissue Samples Collected from the Patients with Primary Hyperoxaluria" 'Mayo IRB #' #80-04. They have already consented to bank their samples and that consent will serve to enroll them in this study.
• * Diagnosis of Dent disease meeting one or more of the following criteria:
• • 1. Identified mutation of the gene that encodes for chloride exchange transporter 5 (CLCN5)
• • 2. Low molecular weight proteinuria and hypercalciuria
• • 3. Low molecular weight proteinuria and nephrocalcinosis
• * Diagnosis of APRT disease meeting one or more of the following criteria:
• • 1. Suspected dihydroxyadeninuria and absent APRT enzyme activity measured in red blood cells (RBCs).
• • 2. Homozygosity, or compound heterozygosity, for known disease-causing APRT mutations.
• • 3. Passage of dihydroxyadenine stones (confirmed with stone analysis).
• * Diagnosis of Cystinuria meeting one or more of the following criteria:
• • 1. Stone analysis demonstrating that the stone contains cystine
• • 2. Increased urinary cystine excretion (\>250 mg/gm creatinine)
• • Relative of someone with confirmed primary hyperoxaluria, Dent disease, APRT deficiency (also known as dihydroxyadeninuria), or cystinuria
• Exclusion Criteria:
• • 1. Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.
• • 2. Unwilling or unable to provide consent/assent.