About Autosomal dominant hypocalcemia
What is Autosomal dominant hypocalcemia?
Autosomal dominant hypocalcemia is a rare inherited disorder characterized by low levels of calcium in the blood. It is caused by mutations in the calcium-sensing receptor gene, which is responsible for regulating calcium levels in the body. Symptoms of this disorder can include muscle cramps, seizures, and tetany (involuntary muscle spasms). Treatment typically involves calcium and vitamin D supplementation, as well as medications to control symptoms.
What are the symptoms of Autosomal dominant hypocalcemia?
The symptoms of Autosomal dominant hypocalcemia can vary from person to person, but may include:
-Tetany (involuntary muscle spasms)
-Abnormal heart rhythms
-Numbness and Tingling in the hands and feet
-Abnormal blood calcium levels
What are the causes of Autosomal dominant hypocalcemia?
The most common cause of autosomal dominant hypocalcemia is a mutation in the calcium-sensing receptor (CaSR) gene. This gene is responsible for regulating the amount of calcium in the body. Mutations in this gene can cause the body to be unable to sense the amount of calcium in the blood, leading to hypocalcemia. Other causes of autosomal dominant hypocalcemia include mutations in the parathyroid hormone (PTH) gene, which is responsible for regulating the amount of calcium in the body, and mutations in the calcium-sensing receptor-associated protein (CASRAP) gene, which is involved in calcium transport.
What are the treatments for Autosomal dominant hypocalcemia?
1. Oral calcium and vitamin D supplements
2. Intravenous calcium gluconate
3. Intravenous calcitriol
4. Parathyroid hormone injections
5. Surgery to remove the parathyroid glands
7. Dietary changes to reduce calcium loss
8. Avoiding certain medications that can interfere with calcium absorption
What are the risk factors for Autosomal dominant hypocalcemia?
1. Family history of Autosomal dominant hypocalcemia
2. Genetic mutations in the CASR gene
3. Certain medications, such as thiazide diuretics
4. Vitamin D deficiency
5. Low dietary calcium intake
6. Chronic kidney disease
7. Certain endocrine disorders, such as hyperparathyroidism or hypoparathyroidism
8. Certain autoimmune disorders, such as Addison’s disease or Graves’ disease