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232 SOUBORNÉ REFERÁTY ● REVIEWS OSTEOGENESIS IMPERFECTA BELLEMORE M. C., MUNNS C. F. The Children’s Hospital at Westmead, Sydney, Australia. ABSTRACT Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass and other connective tissue manifestations. Seven clinical types are now recognised. In most patients the disorder is caused by mutations in genes encoding for collagen type 1. In some types the underlying genetic defect has not yet been detected. The major aims of therapy in osteogenesis imperfecta are improved quality of life and function. Established surgical treatment of recurrent fractures and progressive limb deformities consists of intramedullary rod fixation. Plate fixation is contra-indicated. The decision whether to use a solid rod or a telescopic rod has until recently been based on the personal preference of the treating surgeon. The advent of the Fassier-Duval Telescopic Intramedullary System has been a major advance in the surgical treatment of OI. This telescopic nail fixation has a simple surgical technique, low complication rate and low revision rate. Scoliosis surgery is frequently required for children with moderate to severe OI. The most important therapeutic advance in recent years is the use of bisphosphonate therapy. Cyclical intravenous bisphosphonate therapy for children with moderate to severe forms of OI results in increased bone mineral density and increased bone cortical width. The primary mechanism of action of bisphosphonates is to suppress osteoclastic bone resorption by reducing the number and activity of osteoclasts on the bone surface. Bisphosphonate therapy reduces both bone resorption and formation, resulting in decreased bone remodelling. The beneficial outcomes of bisphosphonate therapy in OI patients are less bone pain, decreased fracture rate, less deformity and increased endurance and mobility. In the short to medium term, bisphosphonate therapy appears safe. An unfavourable outcome of bisphosphonate therapy is delayed healing osteotomies and possibly fractures. Bisphosphonate therapy for OI has now been in use for nearly 20 years. The dosage and timing of therapy needs to be co-ordinated with surgical interventions. The long term consequences of bisphosphonate therapy are yet to be determined. Optimal care of children with osteogenesis imperfecta necessities a multi-disciplinary approach. Keywords: osteogenesis imperfecta, bisphosphonate, intramedullary rod, telescopic intramedullary nail LOCOMOTOR SYSTEM vol. 14, 2007, No. 3+4
INTRODUCTION Osteogenesis imperfecta is a heritable disorder characterised by bone fragility and low bone mass. The effects of this disorder are sometimes apparent in utero and are certainly manifest in early childhood in most cases. Recurrent fractures and progressive limb and spine deformities impact greatly on the wellbeing of affected children and their families. Our knowledge of the clinical manifestations, underlying genetics, bone pathology, treatment modalities and prognosis has advanced greatly in the last 30 years. CLASSIFICATION The most widely used classification of osteogenesis imperfecta is that proposed by David Sillence in 1979 in which he described 4 main types (1). This classification is based on – the severity of skeletal manifestations – the presence or absence of extra skeletal manifestations – the inheritance pattern The majority of cases of OI types I–IV are associated with mutations in the genes encoding collagen type 1. Collagen type 1 is the main structural protein of bone, skin, tendons, dentin and sclera. The collagen type 1 in OI bones is defective in quantity and quality. Over 250 mutations in genes encoding collagen type 1 have been reported accounting for the great variability seen in OI (2). Types V–VII have been added to the classification. Types V–VII are not associated with mutations in type I collagen. Type I Type I OI is a relatively mild form with fractures occurring in early childhood. It has an autosomal dominant pattern of inheritance. Patients have blue sclerae, generalised ligament laxity and relatively normal stature. Dentinogenesis imperfecta is uncommon in this form. Radiological features include osteopenia, thin cortices, fractures, mild bone deformities and Wormian bones. Type II Type II is the most severe form with multiple fractures occurring in utero and in the neonatal period. It has an autosomal dominant pattern of inheritance. Affected babies are small, hypotonic with dark blue sclerae. Radiological features include short wide bones with cortices so thin that they tend to crumple. This form of OI is lethal in the perinatal period, usually because of respiratory failure resulting from multiple rib fractures. Type III Type III is the most severe form compatible with life. It has an autosomal dominant pattern of inheritance. Patients have a triangular facial appearance. They have very short stature, blue sclerae which become whiter with age and dentinogenesis imperfecta. Multiple fractures may occur in utero and in the neonatal period. The tendency to fracture persists into adulthood and is associated with progressive deformities in the upper and lower limbs and spine. Radiological features include osteopenia, thin cortices, narrow diaphy- POHYBOVÉ ÚSTROJÍ, ročník 14, 2007, č. 3+4 233
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Ortopedická protetika Praha sro - Společnost pro pojivové tkáně

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