Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis.

[familial hypocalciuric hypercalcemia]

Calcium pyrophosphate dihydrate crystal deposition disease (CPPD-CDD ) has been associated to hypercalcemia . Familial hypocalciuric hypercalcemia (FHH ) is a rare but important consideration in the differential diagnosis of hypercalcemia . This autosomal dominantly inherited condition is characterized by elevated plasma calcium levels , relative or absolute hypocalciuria , and normal to moderately elevated plasma PTH level . The disease is caused by inactivating mutations in the calcium-sensing receptor gene .We describe a 77 -year -old Italian man with arthritis secondary to CPPD-CDD and hypercalcemia . Clinical and biochemical data (s-Ca : 2 .94 mmol /L ; PTH : 5 .9 pmol /L ; 24 h urinary calcium : 69 .6 mg ; calcium /creatinine clearance : 0 .004 ) suggested the diagnosis of FHH . Mild hypocalciuric hypercalcemia was also found in five of seven relatives confirming the diagnosis , of these one showed chondrocalcinosis .It is important to screen for FHH using fractional urinary excretion of calcium in subjects with CPPD-CDD associated to hypercalcemia , this approach may prevent unnecessary parathyroidectomy .

Diseases
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Diseases presenting "inactivating mutations in the calcium-sensing receptor gene" symptom

familial hypocalciuric hypercalcemia

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