Patients with confirmed or suspected conditions with a resistance to vitamin D or parathyroid
hormone (PTH) will be admitted for diagnosis and treatment, and inclusion in other studies
pertaining to similar conditions.
This study will provide information about problems relating to calcium in the blood, urine,
and bones. Patients in this study will undergo a general evaluation / check-up to give
researchers an idea of each person's condition or disease. Patients will receive treatment
based on their diagnosis and asked to provide specimen samples for further research studies.
Diseases of mineral metabolism such as familial multiple endocrine neoplasia type 1 (FMEN1),
familial hypocaliuric hypercalcemia (FHH), familial hyperparathyroidism (FH), and
pseudohypoparathyroidism (PHP) are known as hereditary abnormalities. Meaning these
conditions are passed from parents to their children through genes. These specific conditions
result in abnormal levels of calcium in the blood.
This study was designed to help researchers understand more about the genes that are
responsible for these disorders. By learning more about the genetic process involved in
hereditary abnormalities, new tests and treatments can be developed.
Subjects for this study will be members of families that have had relatives diagnosed with a
disease of mineral metabolism. Participants will be asked to give blood samples for DNA
extraction. DNA is the part of cells that carries genetic information.
The DNA will be analyzed and the results given to the subjects. Genetic counseling will be
provided to subjects to aid in interpreting their results.
Patients whose parathyroid activity is elevated above normal are referred to as having
hyperparathyroidism. This study will help researchers better understand the causes of
hyperthyroidism and to evaluate and improve methods for diagnosis and treatment.
In this study, patients diagnosed with or suspected of having hyperparathyroidism will be
selected to participate. In addition, patients with related conditions such as parathyroid
tumors, will also be selected.
Subjects will be asked to provide blood and urine for testing to confirm their condition.
They will then be surgically treated by removal of the parathyroid gland(s)
Subjects with parathyroid tumors will undergo several diagnostic tests to determine the exact
location of the tumor as well as the tumor's activity. The tests may include; ultrasounds,
nuclear scanning, CT scans, MRI, and specialized blood testing.
Sometimes parathyroidectomy leads to hypoparathyroidism. Options for treating the patients
after the surgical procedure will also be addressed. Calcium and Vitamin D supplements are
typically the mainstay of post parathyroidectomy therapy. Other potential treatments include
transplanting the parathyroid gland(s) to other areas of the body.