Familial Hypocalciuric Hypercalcemia (Paperback)

Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Familial hypocalciuric hypercalcemia is a condition that can cause hypercalcemia.Most cases are associated with loss of function mutations in the CASR gene, which encodes a calcium-sensing receptor, expressed in parathyroid and kidney tissue. The perceived lack of calcium levels by the parathyroid leads to constiutely high levels of parathyroid hormone, and therefore hypercalcemia.Another form has been associated with chromosome 3q.This condition is indicated by the presence of hypercalcemia (elevated levels of calcium in the blood) at the same time with hypocalciuria (low levels of calcium in the urine). (Usually elevated calcium levels in the blood are correlated with elevated calcium urine levels, as a properly sensing kidney works to excrete the mineral.) A family history could reinforce the diagnosis.