Advances in the Classification and Treatment of Osteogenesis Imperfecta.
Curr Osteoporos Rep
; 14(1): 1-9, 2016 Feb.
Article
em En
| MEDLINE
| ID: mdl-26861807
ABSTRACT
Osteogenesis imperfecta (OI) is a rare disorder of type 1 collagen with 13 currently identified types attributable to inherited abnormalities in type 1 collagen amount, structure, or processing. The disease is characterized by an increased susceptibility to bony fracture. In addition to the skeletal phenotype, common additional extraskeletal manifestations include blue sclerae, dentinogenesis imperfecta, vascular fragility, and hearing loss. Medical management is focused on minimizing the morbidity of fractures, pain, and bone deformities by maximizing bone health. Along with optimizing Vitamin D status and calcium intake and physical/occupational therapy, individualized surgical treatment may be indicated. Pharmacological therapy with bisphosphonate medications is now routinely utilized for moderate to severe forms and appears to have a good safety profile and bone health benefits. New therapies with other anti-resorptives as well as anabolic agents and transforming growth factor (TGF)ß antibodies are in development. Other potential treatment modalities could include gene therapy or mesenchymal cell transplant. In the future, treatment choices will be further individualized in order to reduce disease morbidity and mortality.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteogênese Imperfeita
/
Vitamina D
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Cálcio
/
Modalidades de Fisioterapia
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Difosfonatos
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Conservadores da Densidade Óssea
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Treinamento Resistido
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Fraturas Espontâneas
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Curr Osteoporos Rep
Assunto da revista:
ORTOPEDIA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Estados Unidos