Ann Pediatr Endocrinol Metab.
2018 Jun;23(2):107-111. 10.6065/apem.2018.23.2.107.
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
- Affiliations
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- 1Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea. cwko@knu.ac.kr
- 2Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- KMID: 2417769
- DOI: http://doi.org/10.6065/apem.2018.23.2.107
Abstract
- Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutations. This is the first case report of a novel activating variant of the CaSR gene in a neonate with congenital hypoparathyroidism with hypomagnesemia and hypercalciuria. We also report the 3-month follow-up management of the patient.
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