Familial hypocalciuric hypercalcemia

How is familial hypocalciuric hypercalcemia inherited?

A person with familial hypocalciuric hypercalcemia (FHH) has a 50% (1 in 2) risk to pass on the genetic change (pathogenic variant, also called mutation) to each of his/her children. This is known as autosomal dominant inheritance. People have two copies of each gene (one inherited from each parent). For FHH, one copy of the gene with the pathogenic variant in each cell is sufficient to cause the disorder. The copy of the gene with the pathogenic variant may be inherited from an affected parent, or it may occur for the first time in the person with the disorder.

Rarely, a person may inherit a pathogenic variants in both copies of one of the genes associated with FHH. This can lead to a severe form of the disorder called neonatal severe primary hyperparathyroidism (NSHPT). This disorder may become evident within the first week of life and can be life-threatening. NSHPT is usually caused by pathogenic variants in both copies of the CASR gene.

Last updated on 05-01-20

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Drug Name Generic Name
Zometa, Zabel Zoledronate

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