Seltene autoinflammatorische Knochenerkrankungen

Zusammenfassung Autoinflammatorische Knochenerkrankungen sind gekennzeichnet durch eine entzündliche zelluläre Infiltration des Knochens, Osteoklastenaktivierung, Osteolyse und gesteigertes Knochenremodelling infolge einer aberranten Aktivierung des angeborenen Immunsystems. Der Knochenabbau infolge chronischer Osteomyelitis zeigt die enge Verknüpfung zwischen Immun- und Skelett system. Die Identifizierung von definierten molekularen Defekten bei verschiedenen Erkrankungen konnte bereits zu einem besseren Verständnis der komplexen Interaktion zwischen Knochen und Immunsystem beitragen. Die sporadisch auftretende chronische nichtinfektiöse Osteomyelitis stellt die am häufigsten vorkommende Erkrankung dar. Zu den seltenen monogenetischen autoinflammatorischen Erkrankungen zählen: IL-1- Rezeptorantagonist-Mangel, Majeed-Syndrom und Cherubism. Weitere der sogenannten Inflammasom- und auch Stoffwechsel-erkrankungen aufgrund von Enzymdefekten (Hypophosphatasie, hypertrophe Osteoarthropathie) beeinhalten eine signifikante inflammatorisch bedingte Knochenpathologie. Im folgenden Artikel werden diese seltenen Erkrankungen von den molekularen Pathologien bis hin zur klinischen Präsentation diskutiert. Ein besseres Verständnis der pathophysiologischen Grundlagen von autoinflammatorischen Knochenerkrankungen könnte zur Entwicklung weiterer gezielter Therapieansätze beitragen, wovon letztlich auch Patienten mit häufiger vorkommenden Knochenerkrankungen profitieren.

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