44. Osteogenesis imperfecta: genetics and treatment
نویسندگان
چکیده
منابع مشابه
What is new in genetics and osteogenesis imperfecta classification?
OBJECTIVE Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS In 1979, Sillence et al. developed a classification of OI subtypes based on clinical features and disease severity: OI type I, mild, common, with bl...
متن کاملTreatment of osteogenesis imperfecta in adults.
BACKGROUND Osteogenesis imperfecta (OI) is a heterogeneous rare connective tissue disorder commonly caused by mutations in the collagen type I genes. Pharmacological treatment has been most extensively studied in children, and there are only few studies comprising adult OI patients. OBJECTIVES i) To review the literature on the current medical management of OI in children and adults, and ther...
متن کاملAlendronate treatment in children with osteogenesis imperfecta.
BACKGROUND Recent studies reported beneficial effect of cyclical intravenous administration of pamidronate in children and adolescents with osteogenesis imperfecta (OI). However, this treatment requires frequent hospital admissions and is relatively expensive. Alendronate is an oral bisphosphonate effectively used in adults with osteoporosis. Experience with alendronate treatment in children wi...
متن کاملOsteogenesis imperfecta
Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...
متن کاملBenefits of Pamidronate Treatment in Osteogenesis Imperfecta
Received March 9, 2004 Abstract Osteogenesis imperfecta is a hereditary disorder of connective tissues characterised by low bone mass and bone fragility. Previous studies demonstrated that cyclical pamidronate therapy is effective in increasing bone density and improving clinical outcomes in children with osteogenesis imperfecta. We report our experience in treating two children with cyclical i...
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ژورنال
عنوان ژورنال: Rheumatology Advances in Practice
سال: 2018
ISSN: 2514-1775
DOI: 10.1093/rap/rky034.007