Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature
| Autor: | Anna-Kaisa Niemi, Thomas E. Forman, Laura M. Nally, Run Zhang Shi, Priya Prahalad |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
Parathyroidectomy medicine.medical_specialty Cinacalcet Calcium-Regulating Hormones and Agents Endocrinology Diabetes and Metabolism medicine.medical_treatment Parathyroid hormone 030209 endocrinology & metabolism Gastroenterology 03 medical and health sciences 0302 clinical medicine Endocrinology 030225 pediatrics Internal medicine Humans Medicine Hyperparathyroidism Familial hypocalciuric hypercalcemia business.industry Infant Newborn Clinical course Infant medicine.disease Effective dose (pharmacology) Treatment Outcome Mutation Pediatrics Perinatology and Child Health Calcium-sensing receptor business Receptors Calcium-Sensing medicine.drug |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 32:305-310 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem-2018-0307 |
| Popis: | Background Neonatal 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 presentation We 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. Conclusions Cinacalcet therapy effectively controlled the patient’s serum calcium, phosphorus, and parathyroid hormone (PTH) levels without side effects. |
| Databáze: | OpenAIRE |
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