Question

Familial hypocalciuric hypercalcemia (FHH) is a benign (asymptomatic) autosomal dominant disorder caused by a defective...?

Answer 1

Familial hypocalciuric hypercalcemia (FHH) is a benign (asymptomatic) autosomal dominant disorder caused by a defective CASR gene that affects the calcium-sensing receptor (CaSR) protein. This mutation impairs the body's ability to regulate calcium levels and leads to reduced calcium excretion in the urine.

Step-by-step explanation:

Familial hypocalciuric hypercalcemia (FHH) is a benign (asymptomatic) autosomal dominant disorder caused by a defective gene, known as the CASR gene.

This gene provides instructions for making a protein called the calcium-sensing receptor (CaSR), which helps regulate the levels of calcium in the body.

In FHH, the CASR gene mutation leads to a faulty CaSR protein, resulting in impaired sensing of calcium levels and a reduced ability to excrete calcium in the urine.