A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug
Autor: | P. S. Christensen, R. Cipliene, M. Madsen, A. T. Hansen, T. L. Leunbach, A. J. Schou |
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Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
AD admission day medicine.medical_specialty Cinacalcet Neonatal severe hyperparathyroidism Calcimimetic RR reference range Endocrinology Diabetes and Metabolism medicine.medical_treatment Parathyroid hormone chemistry.chemical_element Case Report 030209 endocrinology & metabolism Diseases of the musculoskeletal system Calcium NHPT neonatal hyperparathyroidism Efficacy NSHPT neonatal severe hyperparathyroidism 03 medical and health sciences 0302 clinical medicine Internal medicine Medicine Orthopedics and Sports Medicine PTH parathyroid hormone Hyperparathyroidism Compound heterozygosity business.industry Type II calcimimetics Symptomatic hypercalcemia FHH familiar hypocalciuric hypercalcemia CaSR calcium sensing receptor Bisphosphonate medicine.disease C-PAP continuous positive airway pressure Endocrinology chemistry RC925-935 030101 anatomy & morphology Calcium-sensing receptor business medicine.drug |
Zdroj: | Leunbach, T L, Hansen, A T, Madsen, M, Cipliene, R, Christensen, P S & Schou, A J 2021, ' A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug ', Bone Reports, vol. 14, 100761 . https://doi.org/10.1016/j.bonr.2021.100761 Bone Reports, Vol 14, Iss, Pp 100761-(2021) Bone Reports |
DOI: | 10.1016/j.bonr.2021.100761 |
Popis: | 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. Highlights • 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. |
Databáze: | OpenAIRE |
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