Osteogenesis imperfecta

 

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Zusammenfassung

Osteogenesis imperfecta (OI) ist eine erbliche Erkrankung, die durch eine erniedrigte Knochenmasse und erhöhte Knochenbrüchigkeit charakterisiert ist. OI ist durch ein breites phänotypisches Spektrum gekennzeichnet, das traditionell durch die Klassifikation in vier verschiedene OI-Typen (OI Typ I–IV) abgebildet wird. Diese Klassifikation wurde zuletzt auf der Grundlage weiterer klinischer Kriterien um drei OI-Typen erweitert (OI Typ V–VII). Die Kenntnis histologischer Besonderheiten, neuer autosomal-rezessiver Formen und genetischer Mutationen kann wesentlich zur korrekten Diagnose und Behandlung eines Patien-ten mit OI beitragen. Dieser Review beschreibt neben der Klassifikation und dem klinischen Bild auch neue pathophysiologische Besonderheiten dieser Erkrankung. Der gegenwärtige Stand der medikamentösen Therapie wird ausführlich diskutiert.

Summary

Osteogenesis imperfecta (OI) is a heritable disorder characterized by low bone mass and increased bone fragility. OI presents with a broad clinical spectrum that is traditionally described by a classification combining four different types of disease severity (OI type I–IV). Recently, this classification was extended (OI type V–VII) on the basis of additional clinical features. The awareness of the histological picture and new autosomal recessive forms as well as the underlying genetic mutations helps to correctly diagnose and manage the OI patient. This review gives an update on the classification and clinical picture of OI and describes new pathopysiological mechanisms of the disease. Current concepts of medical treatment are comprehensively discussed.

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