Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation
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Laura Wade
,
Anita Aindow
Abstract
Objectives
Neonatal severe hyperparathyroidism (NSHPT) due to pathogenic mutations in the calcium-sensing receptor (CASR) is a serious medical condition that can lead to symptomatic hypercalcaemia and has detrimental effects on a child’s growth and development. What is new: This report adds to evidence that homozygous CASR mutations can be managed with cinacalcet monotherapy as an alternative to parathyroidectomy. And, early use of cinacalcet in NSHPT can result in improvements in symptoms, growth and developmental milestones.
Case presentation
We present two siblings with NSHPT due to homozygous mutation in the CASR gene with moderate hypercalcaemia. Both were treated with cinacalcet monotherapy and showed significant improvement in growth parameters including head circumference, developmental milestones and hypercalcaemic symptoms, once their calcium and parathyroid hormone levels normalised.
Conclusions
This report highlights the role of cinacalcet in managing elevated serum calcium levels in a select group of infants with NSHPT due to homozygous CASR mutations, resulting in improvement in hypercalcaemic symptoms, growth and neurodevelopmental outcomes.
Acknowledgments
We are grateful to the Oxford Regional Genetics Laboratory for assisting with the genetic analysis in these cases. In particular, we would like to thank Hannah Boon, the Clinical Scientist.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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- Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation
Articles in the same Issue
- Frontmatter
- Review Article
- Nephrogenic diabetes insipidus: a comprehensive overview
- Original Articles
- Prevalence of type 2 diabetes mellitus, metabolic syndrome, and related morbidities in overweight and obese children
- Impact of sports participation on components of metabolic syndrome in adolescents: ABCD growth study
- Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability
- Evaluation of patients with phenylalanine metabolism disorder: a single center experience
- The association of grandparental co-residence and dietary knowledge with excess body weight among children aged 7–15 years in China
- Clinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study
- Serum kisspeptin, leptin, neuropeptide Y, and neurokinin B levels in adolescents with polycystic ovary syndrome
- Ultrasonographic measurements of the testicular volume in Turkish boys aged 0–8 years and comparison with international references
- Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1
- Benefits of metformin add-on insulin therapy (MAIT) for HbA1c and lipid profile in adolescents with type 1 diabetes mellitus: preliminary report from a double-blinded, placebo-controlled, randomized clinical trial
- Evaluation of efficacy and safety of long-acting PEGylated recombinant human growth hormone (Jintrolong) for patients with growth hormone deficiency
- Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy
- Letter to the Editor
- Correspondence on “Obesity after the Covid-19 pandemic”
- Case Reports
- An unusual presentation of primary adrenal insufficiency with new onset type 1 diabetes: case report and review of the literature
- Niemann–Pick type C disease with a novel intronic mutation: three Turkish cases from the same family
- Weight management in youth with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET): literature search and case report
- Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation
