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Article

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.

Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2022

Özgüç Çömlek Fatma, Demir Selma, Gürkan Hakan, İnan Mustafa, Sezer Atakan, Dilek Emine, Kökenli Filiz

Abstract excerpt

Neonatal severe hyperparathyroidism (NSHPT) causes severe hypercalcaemia, metabolic bone disease, and potential neurodevelopmental deficits, all of which can be life-threatening. The use of calcimimetic agents can prevent or delay technically difficult parathyroidectomy in the newborn period. We present a 6-day-old male infant who presented with poor feeding, weight loss, and severe hypotonia. His total serum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35399047
DOI: 10.5114/pedm.2022.115070
PMCID: PMC10214968

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