Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature-Reference-Cited by-同舟云学术

Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature

Published:2019-02-07 Issue:3 Volume:32 Page:305-310
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Forman Thomas E.¹,Niemi Anna-Kaisa²,Prahalad Priya³,Shi Run Zhang⁴,Nally Laura M.³⁵

Affiliation:

1. Department of Anesthesiology, Perioperative, and Pain Medicine , Stanford University School of Medicine , Stanford, CA , USA

2. Department of Pediatrics, Division of Neonatal and Developmental Medicine , Stanford University School of Medicine , Stanford, CA , USA

3. Department of Pediatrics, Division of Pediatric Endocrinology , Stanford University School of Medicine , Stanford, CA , USA

4. Department of Pathology , Stanford University , Stanford, CA , USA

5. Department of Pediatrics, Division of Pediatric Endocrinology , Yale School of Medicine , 333 Cedar Street, LMP 3103E, P.O. Box 208064 , New Haven, CT 06520 , USA , Phone: 203-785-5809, Fax: 203-764-9149

Abstract

Abstract 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.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2018-0307/pdf

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