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Licensed Unlicensed Requires Authentication Published by De Gruyter February 7, 2019

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

  • Thomas E. Forman , Anna-Kaisa Niemi , Priya Prahalad , Run Zhang Shi and Laura M. Nally EMAIL logo



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.


Cinacalcet therapy effectively controlled the patient’s serum calcium, phosphorus, and parathyroid hormone (PTH) levels without side effects.


We are grateful to Dr. Laura Bachrach for her review of this report.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2018-07-19
Accepted: 2018-11-27
Published Online: 2019-02-07
Published in Print: 2019-03-26

©2019 Walter de Gruyter GmbH, Berlin/Boston

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