Osteogenesis imperfecta: Epidemiology and pathophysiology

Martin, Erika; Shapiro, Jay R.

doi:10.1007/s11914-007-0023-z

Cited by 151 publications

(118 citation statements)

References 27 publications

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“…Although skeletal findings predominate in osteo genesis imperfecta, other affected tissues include pulmonary and cardiac systems, vasculature and dentition 176 . Abnormal ities in these systems should be monitored and treated according to organ specific guidelines.…”

Section: Extraskeletal Manifestationsmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

501

539

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| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) 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, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

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Section: Extraskeletal Manifestationsmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

501

539

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“…Children and adults with type I OI can have normal stature or only minimally affected height reductions whereas those with type III OI uniformly have severe short stature accompanied by numerous fractures and extensive bony abnormalities. Patients with type IV OI have mild to moderate short stature with a variable phenotype in terms of linear growth and extent of fractures although always shorter than their genetic target heights (5,12,(14)(15)(16)(17)(18). Several studies have examined vertebral height after bisphosphonate treatment during varying periods of linear growth and have found conflicting results as to the efficacy of this therapy (19)(20)(21)(22), although there are no prospective studies to date that have examined the effect on final height in the OI population.…”

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confidence: 99%

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

et al. 2015

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Background: There is strikingly limited information on linear growth and weight in the different types of osteogenesis imperfecta (OI). Here, we define growth patterns further with the intent of implementing appropriate adaptations proactively. Methods: We report cross-sectional anthropometric data for 343 subjects with different OI types (144 children, 199 adults). Longitudinal height data for 36 children (18 girls, 18 boys) with OI type I and 10 children (8 girls, 2 boys) with OI type III were obtained. results: In all cases, the height Z-scores were negatively impacted, and final height Z-scores were impacted the most. In type I, the growth velocities taper near puberty, and there is a blunted pubertal growth spurt. The growth velocities of children with type III decelerate before age 5 y; poor growth continues without an obvious pubertal growth spurt. Obesity is a concern for all patients with OI, with type III patients being the most affected. conclusion: The linear growth patterns, in addition to the marked increase in weight over time, indicate a need for lifestyle modifications early in childhood, especially a need for weight control. Further definition of the anthropometric measures in OI enables patients to begin modifications as early as possible.o steogenesis imperfecta (OI) comprises a group of heri-

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“…I и IV тип НО составляют почти половину всех слу-чаев болезни [9]. Болезнь встречается в разных расо-вых и этнических группах, с одинаковой частотой среди мужчин и женщин (в российском регистре соотношение составило 60:40, соответственно).…”

Section: Discussionunclassified

“…По оценке специали-стов, в США распространенность НО в 2007 г. достигла 25-50 тыс. случаев [9]. Если учитывать данную оценку с поправкой на численность населения (в США в 2007 г.…”

Section: Discussionunclassified