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KMID : 1036920180230020107
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Annals of Pediatric Endocrinology & Metabolism
2018 Volume.23 No. 2 p.107 ~ p.111
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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
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Moon Jung-Eun
Lee Su-Jeong
Park Suk-Hyun
Kim Jin-Sup
Jin Dong-Kyu
Ko Cheol-Woo
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Abstract
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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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KEYWORD
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Hypercalciuric hypocalcemia, Hypoparathyroidism, Calcium-sensing receptors, Mutation
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