Osteogenesis imperfecta: diagnosis and treatment

Osteogenesis imperfecta: diagnosis and treatment

Author Palomo, Telma Autor UNIFESP Google Scholar
Vilaca, Tatiane Google Scholar
Lazaretti-Castro, Marise Autor UNIFESP Google Scholar
Abstract Purpose of reviewHere we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults.Recent findingsMutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. In the past 10 years, defects in at least 17 other genes have been identified as responsible for osteogenesis imperfecta phenotypes, with either dominant or recessive transmission. Intravenous bisphosphonate infusions are the most widely used medical treatment. This has a marked effect on vertebra in growing children and can lead to vertebral reshaping after compression fractures. However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under investigation.SummaryDespite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed. Bisphosphonate treatment decreases long-bone fracture rates, but such fractures are still frequent. New antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs, especially in children, need to be better established before they can be used in clinical practice.
Keywords bisphosphonate
bone fragility
collagen
fragility fractures
osteogenesis imperfecta
xmlui.dri2xhtml.METS-1.0.item-coverage Philadelphia
Language English
Sponsor Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq), Brazil
Date 2017
Published in Current Opinion In Endocrinology Diabetes And Obesity. Philadelphia, v. 24, n. 6, p. 381-388, 2017.
ISSN 1752-296X (Sherpa/Romeo, impact factor)
Publisher Lippincott Williams & Wilkins
Extent 381-388
Origin http://dx.doi.org/10.1097/MED.0000000000000367
Access rights Closed access
Type Article
Web of Science ID WOS:000415107500001
URI https://repositorio.unifesp.br/handle/11600/58144

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