Rare Kidney Stone Consortium Biobank

Biologic samples will be stored in the biobank from well characterized patients with primary
hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members,
for use in future research. This will help to advance our understanding of disease expression
and the factors associated with kidney injury in these four diseases with the overall goal of
developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone
formation.

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.