A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 33748353.
- Also identified by DOI 10.1016/j.bonr.2021.100761 and PMC identifier 7972953.
- Licence recorded as CC BY-NC-ND.
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Abstract
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.