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Did cinacalcet help in the management of neonatal severe primary hyperparathyroidism secondary to a novel homozygous inactivating mutation of the calcium-sensing receptor?

✍ Scribed by E.A. Webb; J. Allgrove; T.R. Kurzawinski; M.T. Dattani

Book ID: 116322341
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 90 KB
Volume: 45
Category: Article
ISSN: 8756-3282
DOI: 10.1016/j.bone.2009.04.137

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Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca ++ -sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalc