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
;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). |
