24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/17/2018 |
| Start Date: | October 19, 2017 |
| End Date: | December 30, 2021 |
| Contact: | Barb M Seide, CCRP |
| Email: | seide.barbara@mayo.edu |
| Phone: | 507-255-0387 |
You are being asked to take part in this research registry because you or your family member
is suspected to have a 24-hydroxylase deficiency.
is suspected to have a 24-hydroxylase deficiency.
In this registry we propose to establish and maintain a registry of suspected and confirmed
patients with 24 hydroxylase deficiency in an effort to collect data for further
investigation. This would be the first and only known registry of its kind. These resources
would be made widely available to clinicians and research scientists within Mayo to stimulate
advances in the diagnosis and treatment of patients with this disease.
patients with 24 hydroxylase deficiency in an effort to collect data for further
investigation. This would be the first and only known registry of its kind. These resources
would be made widely available to clinicians and research scientists within Mayo to stimulate
advances in the diagnosis and treatment of patients with this disease.
Inclusion Criteria:
Patients who have undergone genetic testing for a CYP24A1 mutation with at least 3 of the
following:
- Urinary Stone Disease
- Nephrocalcinosis
- Metabolic Bone Disease
- Serum Calcium >/= 9.6 mg/dL
- Parathyroid hormone (PTH) < 30 pg/mL
- 1,25-dihydroxyvitamin D > 40 pg/mL OR a family member of a patient who meets the above
criteria
Exclusion Criteria:
Patients who have tested negative for a CYP24A1 mutation with an alternative diagnosis that
might explain hypercalcemia/hypercalciuria/stone disease:
- Sarcoidosis
- Lymphoma
- Tuberculosis
- Fungal infections
- Excessive exogenous calcium or vitamin D intake
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