What is Which is true about Familial hypocalciuric hypercalcemia? and explain in detail?
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.