Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients

[摘要] Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR)mutations that result in life-threatening hypercalcemia and metabolic bone disease. Until recently, therapy has been surgicalparathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Herewe present the detailed description of two unrelated patients with NSHPT due to heterozygous R185Q CASR mutations.Patient 1 was diagnosed at 11 months of age and had developmental delays, dysphagia, bell-shaped chest, and periostealbone reactions. Patient 2 was diagnosed at 1 month of age and had failure to thrive, osteopenia, and multiple rib fractures.Cinacalcet was initiated at 13 months of age in patient 1, and at 4 months of age in patient 2. We have successfullynormalized their parathyroid hormone and alkaline phosphatase levels. Despite the continuance of mild hypercalcemia(11–12 mg/dl), both patients showed no hypercalcemic symptoms. Importantly, patient 1 had improved neurodevelopmentand patient 2 never experienced any developmental delays after starting cinacalcet. Neither experienced fractures afterstarting cinacalcet. Both have been successfully managed long-term without any significant adverse events. These casesexpand the current literature of cinacalcet use in NSHPT to five successful reported cases. We propose that cinacalcet may beconsidered as an option for treating the severe hypercalcemia and metabolic bone disease found in infants and children withinactivating CASR disorders.

[学科分类] 血液学

[关键词] Neonatal;Paediatric;Female;Male;Black - African;White;United States;Bone;Parathyroid;Bone;PTH;Hyperparathyroidism (primary);Fractures;Dysphagia;Failure to thrive;Osteopenia;Bone fractures;Slow growth;Coughing;Respiratory failure;Hypercalcaemia;Hypercalciuria;Periosteal bone reactions;Genetic analysis;PTH;Alkaline phosphatase;Calcium (serum);Calcium (urine);Phosphate (serum);Cinacalcet;Calcimimetics;Phosphate supplements;Pamidronate;Bisphosphonates;Low calcium formula;Novel treatment;July;2015