학술논문
Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature
Document Type
case-report
Source
Journal of Pediatric Endocrinology and Metabolism. 32(3):305-310
Subject
Language
English
ISSN
2191-0251
0334-018X
0334-018X
Abstract
BackgroundNeonatal severe hyperparathyroidism (NSHPT) is commonly treated with either parathyroidectomy or pharmacologic agents with varying efficacy and numerous side effects. Reports of using cinacalcet for NSHPT have increased, however, the effective dose for pediatric patients from the onset of symptoms through infancy has not been established.Case presentationWe describe the clinical course of a newborn with a de novo R185Q mutation in the calcium-sensing receptor (CASR) gene, causing NSHPT. The infant received cinacalcet from the first days of life until 1 year of age.ConclusionsCinacalcet therapy effectively controlled the patient’s serum calcium, phosphorus, and parathyroid hormone (PTH) levels without side effects.