Learn About Autosomal Dominant Hypocalcemia
Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.
Autosomal dominant hypocalcemia is primarily caused by mutations in the CASR gene; these cases are known as type 1. A small percentage of cases, known as type 2, are caused by mutations in the GNA11 gene. The proteins produced from these genes work together to regulate the amount of calcium in the blood.
The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
State University Of Iowa
Jerilyn Lundberg is an Internal Medicine provider in Iowa City, Iowa. Dr. Lundberg and is rated as an Experienced provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. Her top areas of expertise are Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Stiff Person Syndrome. Dr. Lundberg is currently accepting new patients.
State University Of Iowa
Joseph Dillon is an Endocrinologist in Iowa City, Iowa. Dr. Dillon and is rated as an Experienced provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. His top areas of expertise are Neuroendocrine Tumor, Pheochromocytoma, Adrenal Cancer, Hereditary Paraganglioma-Pheochromocytoma Syndrome, and Liver Embolization.
State University Of Iowa
Elizabeth Bowen is an Endocrinologist in Iowa City, Iowa. Dr. Bowen has been practicing medicine for over 9 years and is rated as an Experienced provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. Her top areas of expertise are Thyroid Storm, Hyperthyroidism, Hyperparathyroidism, and Membranous Nephropathy.
Summary: The primary purpose of the study is to understand the effectiveness, safety, and tolerability of encaleret when compared to standard of care (SoC) treatment in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1).
Published Date: February 01, 2015
Published By: National Institutes of Health