Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.

During your study visit, we will draw one tube, about two teaspoons (1 to 1 ½ teaspoons for children), of blood from your arm. White blood cells from the sample will be used as a source of DNA for genetic testing. We will use the DNA to try to identify mutations (changes) in one of the genes that can cause primary hyperoxaluria. This will be done by comparing it with the structure of these genes in normal individuals, patients with primary hyperoxaluria, and family members of primary hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hr urine test may also be collected.

Inclusion Criteria:

• Ages birth to 99 years in whom clinical information is available from medical records
• Patients with a diagnosis of PH confirmed on previous genetic testing
• Patients with clinical suspicion of primary hyperoxaluria (elevated urine oxalate of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day), history of kidney stones, and/or nephrocalcinosis documented by medical history or imaging studies
• First or second degree family members of a patient with primary hyperoxaluria

Exclusion Criteria:

• Stone formers who do not have confirmed PH and do not meet the inclusion criteria for clinical suspicion of primary hyperoxaluria
• Unwilling or unable to provide consent/assent.