Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation

Abstract

Abstract Objectives Neonatal severe hyperparathyroidism (NSHPT) due to pathogenic mutations in the calcium-sensing receptor (CASR) is a serious medical condition that can lead to symptomatic hypercalcaemia and has detrimental effects on a child’s growth and development. What is new: This report adds to evidence that homozygous CASR mutations can be managed with cinacalcet monotherapy as an alternative to parathyroidectomy. And, early use of cinacalcet in NSHPT can result in improvements in symptoms, growth and developmental milestones. Case presentation We present two siblings with NSHPT due to homozygous mutation in the CASR gene with moderate hypercalcaemia. Both were treated with cinacalcet monotherapy and showed significant improvement in growth parameters including head circumference, developmental milestones and hypercalcaemic symptoms, once their calcium and parathyroid hormone levels normalised. Conclusions This report highlights the role of cinacalcet in managing elevated serum calcium levels in a select group of infants with NSHPT due to homozygous CASR mutations, resulting in improvement in hypercalcaemic symptoms, growth and neurodevelopmental outcomes.