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 surgical parathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Here we present the detailed description two unrelated patients due to heterozygous R185Q CASR mutations. Patient 1 was diagnosed at 11 months age had developmental delays, dysphagia, bell-shaped chest, periosteal reactions. 2 month failure thrive, osteopenia, multiple rib fractures. Cinacalcet initiated 13 patient 1, 4 2. We successfully normalized their parathyroid hormone alkaline phosphatase levels. Despite continuance mild (11–12 mg/dl), both showed no hypercalcemic symptoms. Importantly, improved neurodevelopment never experienced any delays after starting Neither fractures Both managed long-term without significant adverse events. These cases expand current literature cinacalcet use five reported cases. propose may be considered as an option for treating disease found infants children disorders. Learning points NSHPT gene occurs disease, but not always critical illness infancy. NSHPT should differential diagnosis newborn reactions. Neurodevelopmental consequences occur improve during treatment. Calcimimetics can used treat pathophysiology directly control serum calcium