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. 2018 Jun;23(2):107-111.
doi: 10.6065/apem.2018.23.2.107. Epub 2018 Jun 20.

De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism

Jung-Eun Moon  1 , Su-Jeong Lee  1 , Suk-Hyun Park  1 , Jinsup Kim  2 , Dong-Kyu Jin  2 , Cheol Woo Ko  1
Affiliations

De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism

Jung-Eun Moon et al. Ann Pediatr Endocrinol Metab. 2018 Jun.

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.

Keywords: Calcium-sensing receptors; Hypoparathyroidism; Mutation; Hypercalciuric hypocalcemia.

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Figures

Fig. 1.
Fig. 1.
The serial changes in serum phosphate, magnesium, calcium, ionized calcium, i-PTH, and u-Ca/Cr ratio, and medication for 3 months, are shown. IV Cal, intravenous calcium; PO Cal, calcium carbonate per oral; IV Mg, intravenous magnesium; PO Mg, elemental magnesium per oral; i-PTH, intact parathyroid hormone; u-Ca/Cr, spot urine calcium/creatinine.
Fig. 2.
Fig. 2.
We identified a novel variant of calcium-sensing receptor (CaSR) gene in the patient and no variant in her parents. A heterozygous A to T transition is shown at position 2474 in exon 7 of CaSR gene, changing Tyr to Phe (T825P).
Fig. 3.
Fig. 3.
(A) Kidney ultrasonography shows multiple tiny calyceal stones(white arrows) in right kidney. (B) A 0.6-cm stone filling the left renal pelvis(white arrow). (A,B) There was no evidence of obstructive uropathy.
See this image and copyright information in PMC

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