A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug

We report a boy with hypercalcemia due to neonatal severe hyperparathyroidism (NSHPT) caused by a compound heterozygous mutation in the calcium sensing receptor (CaSR) managed successfully on a type II calcimimetic drug. The hypercalcemia was temporarily treated by hyperhydration, bisphosphonate and...

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Bibliographic Details
Published in:Bone Reports 2021-06, Vol.14, p.100761, Article 100761
Main Authors: Leunbach, T.L., Hansen, A.T., Madsen, M., Cipliene, R., Christensen, P.S., Schou, A.J.
Format: Article
Language:English
Subjects:
Case Report
Compound heterozygosity
Neonatal severe hyperparathyroidism
Symptomatic hypercalcemia
Type II calcimimetics
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Summary:We report a boy with hypercalcemia due to neonatal severe hyperparathyroidism (NSHPT) caused by a compound heterozygous mutation in the calcium sensing receptor (CaSR) managed successfully on a type II calcimimetic drug. The hypercalcemia was temporarily treated by hyperhydration, bisphosphonate and calcium depleted milk. At 29 days of age cinacalcet was introduced. The starting dose was 0.5 mg/kg/day and was subsequently titrated to the point of efficacy (5.2 mg/kg/day) when a persuasive reduction in parathyroid hormone and calcium concentrations was observed. We propose a trial of type II calcimimetics in newborns with NSHPT irrespective of the genetic mutation and advocate that residual functionality of the CaSR predict the drug efficacy. •Efficacy of cinacalcet likely depends on residual functionality of the CaSR.•A trial of cinacalcet should be undertaken irrespective of CaSR mutation.•Cinacalcet is safe to use in NSHPT whilst monitoring calcium and PTH concentrations.
ISSN:2352-1872
2352-1872
DOI:10.1016/j.bonr.2021.100761