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Familial hypocalciuric hypercalcemia associated with crystal deposition disease.

Abstract : Chondrocalcinosis is a common disease occasionally associated with hypercalcemia in case of primary hyperparathyroidism. Familial Hypocalciuric Hypercalcemia (FHH) is a rare and almost always asymptomatic condition, due to an autosomal dominant mutation of the calcium-sensing receptor gene. We report the case of a 61-year-old female with chronic hypercalcemia and joint pain. Clinical and biological data revealed chondrocalcinosis associated with FHH. Since primary hyperparathyroidism may mimic FHH, calcium to creatinine clearance ratio should be calculated in every case to avoid a wrong diagnosis and useless parathyroid surgery. The paucity of FFH complications, including chondrocalcinosis, makes their study difficult: additional studies are needed to clearly evaluate the link between FHH and chondrocalcinosis.
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Contributor : Laurent Jonchère Connect in order to contact the contributor
Submitted on : Tuesday, March 24, 2015 - 10:45:02 AM
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Lilian Alix, Pascal Guggenbuhl. Familial hypocalciuric hypercalcemia associated with crystal deposition disease.. Joint Bone Spine, Elsevier Masson, 2015, 82 (1), pp.60-2. ⟨10.1016/j.jbspin.2014.08.007⟩. ⟨hal-01134692⟩



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