Hereditäre Skeletterkrankungen unter besonderer Berücksichtigung der Gruppe genetisch entzündlicher/rheumatoider Osteoarthropathien

Zusammenfassung

Der Nosologie als systematische Klassifikation von Erkrankungen kommt vor allem bei den seltenen Krankheiten eine besondere Bedeutung zu. Eine Sonderrolle spielen dabei die über 500 seltenen genetischen Skeletterkrankungen, die von Experten der International Skeletal Dysplasia Society (ISDS) alle 4 Jahre neu geordnet und klassifiziert werden [1]. Die ganz aktuelle Zusammenstellung von Bonafe et al. [2] wurde nach den Kriterien der vorangegangenen Version [3] konzipiert: Eingeschlossen wurden (i) Erkrankungen mit wesentlicher Knorpel-/Knochen-Beteiligung, also Skelettdysplasien, Knochenstoffwechsel-Erkrankungen, Dysostosen, Skelettfehlbildungs- und/oder Reduktions-Syndrome, (ii) publizierte Erkrankungen mit Skelettbeteiligung, die mit einer MIM-Nr. gelistet sind, (iii) Erkrankungen mit Knochensymptomatik, deren genetische Basis aufgrund von Stammbaum-Daten, Phänotyp-Ähnlichkeit oder Beschreibung verschiedener, nicht-verwandter Familien beruht, (iv) Störungen, deren nosologische Zugehörigkeit aufgrund funktioneller Analysen gegeben ist. Als 31. Gruppe aus der Liste von 42 Krankheitsgruppen gilt unser besonderes Interesse den genetisch bedingten, entzündlichen bzw. rheumatoiden Osteoarthropathien.

Abstract

Nosology as a systemic classification of disorders is of major importance in the field of rare diseases. A special role is taken by over 500 rare genetic disorders of the skeleton, for which experts from the International Skeletal Dysplasia Society (ISDS) provide a new filing system and classification every 4 years [1]. The most recent version published by Bonafe et al. [2] is based on the criteria of the previous version [3] and includes conditions (i) with significant involvement of cartilage and bone, meaning skeletal dysplasias, metabolic bone disorders, dysostoses, and skeletal malformation and/or reduction syndromes; (ii) publicised diseases with skeletal involvement, which are listed with a MIM number; (iii) diseases with bone symptoms and a genetic basis proven by pedigree or very likely based on homogeneity of phenotype in unrelated families; (iv) disorders whose nosologic classification is based on functional analysis. Looking at the list of 42 disease groups, we have focused our interest on group 31, the genetic inflammatory/rheumatoid osteoarthropathies.

Schlüsselwörter

Skelettdysplasie Arthritis - autoinflammatorische Erkrankungen - Genetik

Key words

skeletal dysplasia - arthritis autoinflammatory diseases - genetics

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