Autosomal Dominant HypocalcemiaSymptoms, Doctors, Treatments, Advances & More
Autosomal Dominant Hypocalcemia Overview
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.
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Rachel Gafni is a Pediatric Endocrinologist practicing medicine in Bethesda, Maryland. Dr. Gafni is rated as an Elite provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Autosomal Dominant Hypocalcemia, Osteomalacia, Osteitis Fibrosa, Malnutrition, and Hormone Replacement Therapy (HRT).
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Kelly Roszko is an Endocrinologist practicing medicine in Bethesda, Maryland. Dr. Roszko is rated as an Elite provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Autosomal Dominant Hypocalcemia, Fibrous Dysplasia, Osteitis Fibrosa, Calcinosis, and Hormone Replacement Therapy (HRT).
Dept Of Transfusion Medicine/Nih Clinical Center
Iris Hartley is an Endocrinologist practicing medicine in Bethesda, Maryland. Dr. Hartley is rated as an Elite provider by MediFind in the treatment of Autosomal Dominant Hypocalcemia. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Autosomal Dominant Hypocalcemia, Osteomalacia, Hypophosphatemia, and Rickets.
Summary: The overall objective of this study is to evaluate the pharmacokinetics (PK), efficacy, and safety of encaleret in pediatric participants from birth to 17 years of age with ADH1.
Published Date: February 01, 2015
Published By: National Institutes of Health