title: 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.
authors.affiliation: Service de médecine interne, hôpital sud, centre hospitalier universitaire, 35000 Rennes, France.
authors.forename: Lilian
authors.initials: L
authors.lastname: Alix
authors.affiliation: INSERM UMR 991, 35000 Rennes, France; Service de rhumatologie, hôpital Sud, CHU, 35000 Rennes, France; Université de Rennes 1, 35000 Rennes, France. Electronic address: pascal.guggenbuhl@chu-rennes.fr.
authors.forename: Pascal
authors.initials: P
authors.lastname: Guggenbuhl
mesh_terms: D002114:Calcinosis / Q000175:diagnosis*; D002805:Chondrocalcinosis / Q000175:diagnosis*; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D044169:Receptors, Calcium-Sensing / Q000235:genetics
chemical_list: C095550:CASR protein, human; D044169:Receptors, Calcium-Sensing
keywords: Calcium-sensing receptor; Chondrocalcinosis; Familial Hypocalciuric Hypercalcemia