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

T L Leunbach; A T Hansen; M Madsen; R Cipliene; P S Christensen; A J Schou

doi:10.1016/j.bonr.2021.100761

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

Bone Rep. 2021 Mar 4:14:100761. doi: 10.1016/j.bonr.2021.100761. eCollection 2021 Jun.

Authors

T L Leunbach^{1

2}, A T Hansen³, M Madsen¹, R Cipliene¹, P S Christensen¹, A J Schou^{2

4}

Affiliations

¹ Department of Pediatrics, Aalborg University Hospital, Reberbansgade 15, 9000 Aalborg, Denmark.
² H.C. Andersen Children's Hospital, Odense University Hospital, Sdr. Boulevard 29, 5000 Odense, Denmark.
³ Department of Clinical Biochemistry, Aalborg University Hospital, Reberbansgade 15, 9000 Aalborg, Denmark.
⁴ Steno Diabetes Center Odense, Odense University Hospital, Sdr. Boulevard 29, 5000 Odense, Denmark.

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.

Keywords: AD, admission day; C-PAP, continuous positive airway pressure; CaSR, calcium sensing receptor; Compound heterozygosity; FHH, familiar hypocalciuric hypercalcemia; NHPT, neonatal hyperparathyroidism; NSHPT, neonatal severe hyperparathyroidism; Neonatal severe hyperparathyroidism; PTH, parathyroid hormone; RR, reference range; Symptomatic hypercalcemia; Type II calcimimetics.

Publication types

Case Reports