Obiteljska hipokalciurična hiperkalcemija i receptor osjetljiv na kalcij

Familial hypocalciuric hypercalcemia (FHH ) is a lifelong, benign autosomal dominant disease characterized by hypercalcemia, normal to increased parathyroid hormone level, and a relatively low renal calcium excretion. Inactivation of the calcium-sensing receptor in heterozygous patients results in FHH , while in homozygous patients as well as in compound heterozygous or dominant negative heterozygous patients, it may result in neonatal severe hyperparathyroidism (NSHPT ). Parathyroid surgery is not indicated in FHH and does not lower plasma calcium unless total parathyroidectomy is performed, in which case hypocalcemia ensues. There is currently no definitive medical treatment available, although pamidronate can be used to stabilize these patients before parathyroidectomy. Some NSHPT patients are asymptomatic subsequently in their lives. In this paper, clinical characteristics of this relatively rare disorder are presented.Obiteljska hipokalciurična hiperkalcemija je relativno čest uzrok asimptomatske hiperkalcemije. Obiteljska hipokalciurična hiperkalcemija je autosomno dominantni poremećaj obilježen umjerenom hiperkalcemijom i relativnom hipokalciurijom. Obiteljska hipokalciurična hiperkalcemija nastaje uslijed inaktivirajuće mutacije gena za CaSR, receptor osjetljiv na kalcij. Najčešće ovaj poremećaj ne zahtijeva kirurško liječenje, kako je to slučaj s drugim oblicima primarnog hiperparatireoidizma. Pokušaji da se hiperkalcemija liječi lijekovima nisu bili uspješni i nisu snizili razinu kalcija u serumu. Studije pokazuju da sinakalcet (MimparaR) može zaustaviti nenormalno prepoznavanje serumskog kalcija od strane paratireoidnih žlijezda, tako da dođe do normalne sekrecije paratireoidnog hormona. U ovom radu opisane su kliničke manifestacije ove relativno rijetke bolesti