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
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