Which is true about Familial hypocalciuric hypercalcemia?
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.
Inherited as autosomal recessive pattern
Cause is defect in PTH receptor
Clinical symptoms occur in third decade
Treatment is rarely necessary
Disorders of Parathyroid Gland