Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

Abstract Background Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutati...

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Main Authors: Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di lorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-10-01
Colecção:BMC Pediatrics
Assuntos:
Hypercalcemia
Calcium sensing receptor
Neonatal severe primary hyperparathyroidism
Out-of-hospital cardiorespiratory arrest
Parathyroidectomy
Acesso em linha:http://link.springer.com/article/10.1186/s12887-018-1319-0
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