par Brachet, Cécile ;Boros, EMESE ;Tenoutasse, Sylvie ;Lissens, Willy;Andry, Guy ;Martin, Philippe;Bergmann, Pierre ;Heinrichs, Claudine
Référence European journal of endocrinology, 161, 1, page (207-210)
Publication Publié, 2009-07
Article révisé par les pairs
Résumé : Familial hypocalciuric hypercalcaemia (FHH) is clinically characterized by mild to moderate parathyroid hormone (PTH)-dependent hypercalcaemia, autosomal dominant pattern of inheritance, and normal to frankly reduced urinary calcium excretion in spite of a high serum calcium (clearance (Ca)/clearance (Cr)<0.01). FHH has a benign course and should be differentiated from primary hyperparathyroidism. It is usually caused by a heterozygous loss-of-function mutation in the calcium-sensing receptor gene (CASR).

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