Current status in therapeutic interventions of neonatal bone mineral metabolic disorders

摘要

Neonatal care has significantly improved in the past decade with improved survival of preterm and sick neonates. Similarly, the field of bone and mineral disorders is continuing to accelerate with better understanding of pathophysiology and genetic basis of diseases, as well as availability of newer diagnostic and therapeutic modalities. In this extensive and rapidly expanding field, metabolic bone disease specialists are frequently called upon to translate progress into better care for neonates with bone and mineral disorders. Accordingly, this chapter provides a review of clinical manifestations and evidence-based investigation and management (where available) of common, rare and ultra-rare disorders of bone and mineral metabolism manifesting in the neonatal period. Besides medical treatment we emphasise the crucial role of the multidisciplinary team, which include physical therapists, occupational therapists and dieticians, in the care of neonates with bone disorders such as osteogenesis imperfecta and achondroplasia.