Rare Kidney Stone Consortium Biobank

Eligibility 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
• 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.