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Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K)
Zeynep Donbaloglu1, Merve Gullu2, Suat Tekin2
1Department of Pediatric Endocrinology, Akdeniz University Hospital, Antalya, Türkiye.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|January 22, 2025
Summary
Neonatal severe hyperparathyroidism (NSHPT), caused by CaSR gene mutations, requires early diagnosis. This case shows successful management through bisphosphonates, cinacalcet, and parathyroidectomy, leading to normal development.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Nephrology
Background:
- Neonatal severe hyperparathyroidism (NSHPT) is a rare genetic disorder.
- It stems from inactivating mutations in the calcium-sensing receptor (CaSR) gene.
- NSHPT leads to severe hypercalcemia and associated complications in newborns.
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