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

The goal of this review is to give an overview of diagnosis and up-to-date management of major pediatric metabolic bone diseases that are associated with bone fragility, including nutritional rickets, hypophosphatemic rickets, osteogenesis imperfecta, Ehlers--Danlos syndrome, Marfan's syndrome, hypophosphatasia, osteopetrosis and skeletal fluorosis.

During the past decade, a number of advanced treatment options have been introduced and shown to be an effective treatment in many metabolic bone disorders, such as burosumab for hypophosphatemic rickets and asfotase alfa for hypophosphatasia. On the other hand, other disorders, such as nutritional rickets and skeletal fluorosis continue to be underrecognized in many regions of the world. Genetic disorders of collagen-elastin, such as osteogenesis imperfecta, Ehlers--Danlos syndrome and Marfan's syndrome are also associated with skeletal fragility, which can be misdiagnosed as caused by non-accidental trauma/child abuse.

It is essential to provide early and accurate diagnosis and treatment for pediatric patients with metabolic bone disorders in order to maintain growth and development as well as prevent fractures and metabolic complications.