Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.
Who can participate
Age range1 Day
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
What they're measuring
1
Genotype markers of early symptomatic onset of primary hyperoxaluria