Primary Hyperoxaluria
Conditions
Keywords
PH, PH type 1, Primary Hyperoxaluria, Hyperoxaluria, Primary Oxalosis, PH type 2, PH type 3, Genetic testing for PH, Genetic testing for Primary Hyperoxaluria, Hereditary study for PH, Hereditary study for Primary Hyperoxaluria, AGXT, GRHPR, HOGA1
Brief summary
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.
Detailed description
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.
Interventions
OTHERGenetic Analysis
We will draw one tube of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic analysis.
Sponsors
Mayo Clinic
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Days to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genotype markers of early symptomatic onset of primary hyperoxaluria | 5 years | Correlation of genotype with severity of disease as defined by age at onset of symptoms |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria | 5 years | Correlation of genotype with severity of disease as defined by the level of urine oxalate |
| Genotype markers of early loss of kidney function in patients with primary hyperoxaluria. | 5 years | Correlation of genotype with age at kidney failure |
Countries
United States
Outcome results
None listed