Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature
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Thomas E. Forman
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.
Acknowledgments
We are grateful to Dr. Laura Bachrach for her review of this report.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
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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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Improved adherence and growth outcomes with jet-delivered growth hormone
- Validation of the Greek version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire
- Growth hormone deficiency in children with antenatal Bartter syndrome
- Physical growth and development characteristics of children with Williams syndrome aged 0–24 months in Zhejiang Province
- Adiposity and adipocytokines: the moderator role of cardiorespiratory fitness and pubertal stage in girls
- Serum omentin-1 levels in obese children
- A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing
- Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature
- Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients
- The effect of therapy on plasma ghrelin and leptin levels, and appetite in children with iron deficiency anemia
- The effect of PKU diet on the maternal quality of life and social discrimination in relation to their educational status and place of living
- Evaluating the four most important salivary sex steroids during male puberty: testosterone best characterizes pubertal development
- Case Reports
- Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing
- A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8
- Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Improved adherence and growth outcomes with jet-delivered growth hormone
- Validation of the Greek version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire
- Growth hormone deficiency in children with antenatal Bartter syndrome
- Physical growth and development characteristics of children with Williams syndrome aged 0–24 months in Zhejiang Province
- Adiposity and adipocytokines: the moderator role of cardiorespiratory fitness and pubertal stage in girls
- Serum omentin-1 levels in obese children
- A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing
- Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature
- Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients
- The effect of therapy on plasma ghrelin and leptin levels, and appetite in children with iron deficiency anemia
- The effect of PKU diet on the maternal quality of life and social discrimination in relation to their educational status and place of living
- Evaluating the four most important salivary sex steroids during male puberty: testosterone best characterizes pubertal development
- Case Reports
- Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing
- A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8
- Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature
