Autosomal Dominant Hypocalcemia

What is autosomal dominant hypocalcemia?

Autosomal dominant hypocalcemia is a rare genetic condition that causes low blood calcium levels. Autosomal dominant means the condition is often passed down from a parent to a child. There are 2 types of autosomal dominant hypocalcemia: type 1 (ADH1) and type 2 (ADH2), but the CALIBRATE study is only enrolling people with ADH1. Both types are caused by a genetic difference, called a variant, in the gene that helps make the body’s calcium sensing receptor.

The difference between ADH1 and ADH2 is which gene has the variant. For both types, as a result of the variant, the body’s calcium sensing receptor becomes too sensitive. The calcium sensing receptor senses that there is more calcium in the blood than there actually is. The body does not increase blood calcium when levels are low, and it gets rid of calcium in urine, even though the body needs it. Autosomal dominant hypocalcemia is a rare form of hypoparathyroidism that can cause lower PTH (parathyroid hormone), lower blood calcium, and higher urinary calcium (hypercalciuria).

What are the symptoms of low calcium?

Some people with low blood calcium levels have no symptoms. Others may experience symptoms that include but are not limited to the following:

Where can I learn more?

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