Osteogenesis imperfecta: diagnosis and treatment

@article{Palomo2017OsteogenesisID,
  title={Osteogenesis imperfecta: diagnosis and treatment},
  author={Telma Palomo and Tatiane Vilaca and Marise Lazaretti-Castro},
  journal={Current Opinion in Endocrinology \& Diabetes and Obesity},
  year={2017},
  volume={24},
  pages={381–388}
}
Purpose of review Here 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 findings Mutations 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… Expand
Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment
TLDR
Newer medications with anti-resorptive and bone anabolic action are being investigated in an attempt to improve on the efficacy of bisphosphonates but the safety and efficacy of these new approaches in children with OI is not yet established. Expand
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TLDR
Preclinical studies in OI mouse models have shown encouraging effects when the antiresorptive effect of a bisphosphonate was combined with bone anabolic therapy using a sclerostin antibody. Expand
Osteogenesis imperfecta
TLDR
In the past decade, recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification have been shown to cause osteogenesis imperfecta. Expand
A Systematic Overview of Osteogenesis Imperfecta
TLDR
This brief review mainly discusses current knowledge of pharmacology therapies and possible future therapies for treatment of OI, a worldwide extensive disorder regardless of age, gender or ethnic group for a children and adults. Expand
MANAGEMENT OF ENDOCRINE DISEASE: Osteogenesis imperfecta: an update on clinical features and therapies.
TLDR
Clinically, OI is heterogeneous in features and variable in severity, and new strategies are being explored, such as sclerostin inhibitory antibodies and TGF beta inhibition, to address not only the low bone mineral density but also the inherent bone fragility. Expand
PHENOTYPIC CHARACTERISTICS IN OSTEOGENESIS IMPERFECTA PATIENTS
TLDR
The most frequent mutation was the missense mutation, the most often detected in children with OI type III having a severe course, leading to a qualitative violation of collagen. Expand
Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations
TLDR
Clinical screening for hip Dysplasia is difficult in OI owing to the bowing of the proximal femur and the risk of causing fractures, so OI patients with positive C-propeptide mutation should be screened for hip dysplasia by use of ultrasound. Expand
Osteogenesis imperfecta: Review of 40 patients.
TLDR
The COL1A1 gene is the most frequently affected and OI patients should receive multidisciplinary management and bisphosphonates can improve their quality of life. Expand
Osteogenesis imperfecta: Review of 40 patients
TLDR
The COL1A1 gene is the most frequently affected and OI patients should receive multidisciplinary management and bisphosphonates can improve their quality of life. Expand
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta
TLDR
The mutation spectrum was expanded and novel correlations between genotype and phenotype in Chinese OI patients were identified, suggesting a potential genotype–phenotype correlation. Expand
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