Moon Jung-Eun, Lee Su-Jeong, Park Suk-Hyun, Kim Jinsup, Jin Dong-Kyu, Ko Cheol Woo
Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2018 Jun;23(2):107-111. doi: 10.6065/apem.2018.23.2.107. Epub 2018 Jun 20.
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.
常染色体显性遗传性低钙血症伴高钙尿症（ADHH）是一种以甲状旁腺功能减退伴高钙尿症为特征的遗传性疾病。大多数ADHH患者存在钙敏感受体（CaSR）基因突变。CaSR基因控制甲状旁腺分泌，该基因的突变可通过血清钙水平的变化检测到。CaSR基因的激活突变导致家族性或散发性ADHH。据报道，CaSR基因的大多数激活突变是新发错义突变。这是首例关于CaSR基因新型激活变异体在患有先天性甲状旁腺功能减退伴低镁血症和高钙尿症的新生儿中的病例报告。我们还报告了该患者3个月的随访管理情况。
