a novel variant of gene in a neonate with congenital hypoparathyroidism

oleh: Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko

Format: Article
Diterbitkan: Korean Society of Pediatric Endocrinology 2018-06-01

Deskripsi

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.