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Familial Hypocalcuric (Benign) Hypercalcaemia CASR

Familial Hypocalciuric (Benign) Hypercalcaemia or CASR is an inherited genetic disorder of the calcium -sensing receptor (CaSR). It is a rare autosomal dominant disorder where affected individuals develop tumours in two or more endocrine glands at the same time, making the affected glands overactive.

Normally, if parathyroid glands are affected, they produce too much parathyroid hormone which in turn causes calcium level to rise. In FHBB, however, there is some resistance to to these affects and  parathyroid hormone levels are normal and the hypercalcaemia is benign - there are no symptoms and treatment is not required.  

This condition has been confused with primary hyperparathyroidism in the past, which also produces high calcium levels (hypercalcaemia) and high levels of calcium in the urine (hypercalciuria) and which is often treated by surgical removal of the parathyroid gland. This is not necessary in FHBB and should be avoided.


   
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