Which is true about Familial hypocalciuric hypercalcemia?
Correct Answer: Treatment is rarely necessary
Description: Familial hypocalciuric hypercalcemia is an autosomal dominant disorder. Hence choice A is wrong. The mutation in PTH receptor is known as Jansen disease. Hence choice B is wrong. The cause is defective calcium sensing by parathyroid gland leading to excess release of PTH and subsequent hypercalcemia. Urinary reabsorption of calcium is 99% and it presents in the first decade of life. Hence Choice C is wrong. Clinical symptoms are rarely present and hence no treatment is warranted.
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