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Familial hypocalciuric hypercalcemia : ウィキペディア英語版 | Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia is a condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL. It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day. ==Causes==
Types include: Most cases are associated with loss of function mutations in the CaSR gene, which encodes a calcium-sensing receptor,〔(【引用サイトリンク】title=A Practical Approach to Hypercalcemia - May 1, 2003 - American Family Physician )〕 expressed in parathyroid and kidney tissue. The perceived lack of calcium levels by the parathyroid leads to constitutively high levels of parathyroid hormone, and therefore hypercalcemia. Functionally, parathyroid hormone (PTH) (aka parathormone or parathyrin) increases calcium resorption from the bone and increases phosphate excretion from the kidney which increases serum calcium and decreases serum phosphate. Another form has been associated with chromosome 3q.
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