Summary
Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Additional patients can be affected by dwarfism, scoliosis Dentinogenesis imperfecta, deafness and a blueish discoloration of the sclera. During childhood state of the art medical treatment are i.v. bisphosphonates to increase bone mass and to reduce fracture rate. Surgical interventions are needed to treat fractures, to correct deformities and should always be accompanied by physiotherapeutic and rehabilitative interventions.
Zusammenfassung
Die Osteogenesis imperfecta ist eine seltene angeborene Erkrankung, welche in ~ 85% der Fälle auf Mutationen in den Kollagengenen COL1A1/A2 beruht. Folglich kommt es in den Osteoblasten zu einer veränderten Kollagensynthese und -modifikation. In den letzten Jahren ist es gelungen, die genetische Ursache für seltene rezessive Formen, welche nicht nur die Osteoblastenfunktion, sondern auch die Osteoklastenfunktion verändern, zu identifizieren. Das führende klinische Symptom ist die erhöhte Knochenfragilität im Rahmen niedrig-traumatischer Ereignisse und die Deformierung der langen Röhrenknochen. Zusätzlich können eine Dentinogenesis imperfecta, ein Kleinwuchs, eine Schwerhörigkeit und eine „Blau- bzw Grauverfärbung" der Skleren auftreten. Die Therapie basiert auf 3 Ansätzen: Während Kindheit und Jugend ist die intravenöse Gabe von Bisphosphonaten die medikamentöse Therapie der Wahl mit der best verfügbaren Evidenz. Chirurgische / orthopädische Interventionen sind notwendig zur Versorgung komplizierter Frakturen und der elektiven osteosynthetischen Begradigung im Falle schwerer Deformierungen der Extremitäten. Sowohl die medikamentöse Therapie als auch orthopädische Eingriffe sollten kontinuierlich von physiotherapeutischen Maßnahmen begleitet werden, um eine Kräftigung der Muskulatur als wichtigstem osteoanabolen Stimulus und eine langfristige Selbständigkeit der Betroffenen zu gewährleisten.
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Hoyer-Kuhn, H., Netzer, C. & Semler, O. Osteogenesis imperfecta: pathophysiology and treatment. Wien Med Wochenschr 165, 278–284 (2015). https://doi.org/10.1007/s10354-015-0361-x
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DOI: https://doi.org/10.1007/s10354-015-0361-x