Zusammenfassung
Die Osteogenesis imperfecta (OI) ist die häufigste angeborene Erkrankung, die mit einer Frakturneigung und einer systemischen Skelettbeteiligung einhergeht. Die große Mehrzahl der Patienten hat eine autosomal-dominant erbliche OI-Form mit einer Mutation in den Typ-I-Kollagen-Genen COL1A1 oder COL1A2. Seit 2006 wurden 8 Gene identifiziert, die autosomal-rezessiv erblichen Formen der Erkrankung zugrunde liegen, sowie ein weiteres Gen für eine autosomal-dominant erbliche OI. Das Verständnis der molekularen Pathophysiologie konnte wesentlich erweitert werden. Das bisherige Paradigma der OI als einer reinen „Kollagenopathie“ erscheint ebenso revisionsbedürftig wie das klinische Klassifikationssystem. Standardtherapie der schwereren OI-Formen ist die Behandlung mit intravenösen Bisphosphonaten. Ergänzend kommen in einem multimodalen Behandlungskonzept operative Maßnahmen zur Begradigung deformierter Extremitäten und zur Frakturversorgung sowie die Physiotherapie hinzu.
Abstract
Osteogenesis imperfecta (OI) is the most frequently occurring congenital disorder with an increased fracture rate and systemic skeletal involvement. The vast majority of patients have an autosomal dominant form of OI resulting from a mutation in one of the two type I collagen genes COL1A1 or COL1A2. Since 2006, eight genes for autosomal recessive forms of the disorder have been identified, as well as one additional gene for autosomal dominant OI. Our knowledge concerning molecular pathophysiology has been substantially broadened, such that the paradigm of OI as a pure “collagenopathy” no longer applies and the clinical classification system will have to be revised. Standard therapy for the more severe forms of OI comprises intravenous administration of bisphosphonates. Additional elements of a multimodal therapeutic concept include surgical intervention for bone deformities or fractures and physiotherapy.
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Semler, O., Hoyer-Kuhn, H. & Netzer, C. Osteogenesis imperfecta. medgen 24, 297–311 (2012). https://doi.org/10.1007/s11825-012-0358-4
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DOI: https://doi.org/10.1007/s11825-012-0358-4