Rare Kidney Stone Consortium Biobank

Inclusion Criteria:

• Diagnosis of primary hyperoxaluria (PH) meeting one or more of the followingcriteria:

1. Liver biopsy documenting alanine-glyoxylate aminotransferase (AGT) activitybelow the normal reference range confirming PH type 1 OR Liver biopsydocumenting glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) activitybelow the normal reference range confirming PH type 2

2. Molecular genetic analysis (DNA testing) confirming mutations known to cause PHtype 1, PH type 2, or PH type 3

3. Urinary oxalate excretion of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73m2/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 normutational analysis are available must have: (a) A plasma oxalate concentrationof greater than 60 umol/L and a kidney biopsy confirming extensive oxalatedeposits OR (b) Evidence of systemic oxalosis

5. Participants in the previous protocol "Tissue Bank of Urine, Blood, and TissueSamples Collected from the Patients with Primary Hyperoxaluria" 'Mayo IRB #'

#80-04. They have already consented to bank their samples and that consent willserve 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 redblood cells (RBCs).

2. Homozygosity, or compound heterozygosity, for known disease-causing APRTmutations.

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, APRTdeficiency (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.