Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility.

摘要: Purpose of review The goal this is to give an overview diagnosis and up-to-date management major pediatric metabolic bone diseases that are associated with fragility, including nutritional rickets, hypophosphatemic osteogenesis imperfecta, Ehlers--Danlos syndrome, Marfan's hypophosphatasia, osteopetrosis skeletal fluorosis. Recent findings During the past decade, a number advanced treatment options have been introduced shown be effective in many disorders, such as burosumab for rickets asfotase alfa hypophosphatasia. On other hand, fluorosis continue underrecognized regions world. Genetic disorders collagen-elastin, syndrome also which can misdiagnosed caused by non-accidental trauma/child abuse. Summary It essential provide early accurate patients order maintain growth development well prevent fractures complications.