Zusammenfassung
Die Klassifikation der klassischen Osteogenesis imperfecta (OI) erfuhr mit der Entdeckung von 6 weiteren Formen eine grundlegende Erweiterung der 4 Typen nach Sillence. Die OI ist ein heterogenes Krankheitsbild, das eine milde, moderate oder schwere klinische Ausprägung zeigt. Die Unterschiede liegen in der Frakturhäufigkeit und dem Verformungsrisiko der Knochen. Beides führt zu einer sehr unterschiedlichen Mobilität und Selbständigkeit der Patienten. Die interdisziplinäre Therapie umfasst die langjährige Gabe von Bisphosphonaten, Rehabilitationsprogramme und orthopädische Maßnahmen. In der orthopädischen Therapie werden moderne konservative und operative Frakturbehandlungen zur Stabilisierung der Knochenbrüche angewendet, moderne Teleskopnägel werden zur Deformitätenkorrektur genutzt. Durch diese kombinierten Therapieverfahren konnte die Lebensqualität von OI-Patienten aller Schweregrade stark verbessert werden.
Abstract
The classic Sillence classification of the four types of osteogenesis imperfecta (OI) has been extended by six additional forms in recent years. OI is a heterogeneous disease, which can exhibit a mild, moderate and severe clinical picture. The clinical variability is expressed by a different frequency of fracture incidences and bone deformity risks so that both factors lead to very different degrees of mobility and autonomy of patients. The treatment principles comprise long standing medication of bisphosphonates, rehabilitation measures and orthopedic treatment. The orthopedic treatment uses modern techniques of conservative and operative fracture management for fracture stabilization and modern telescopic rods for deformity correction. These combined treatment modalities have given an improved quality of life to OI patients of all severity grades.
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Wirth, T. Osteogenesis imperfecta. Orthopäde 41, 773–784 (2012). https://doi.org/10.1007/s00132-012-1959-y
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DOI: https://doi.org/10.1007/s00132-012-1959-y