Gene und Risikofaktoren bei der juvenilen idiopathischen Arthritis

Zusammenfassung

Die juvenile idiopathische Arthritis (JIA) ist keine Erberkrankung im klassischen Sinne, und doch haben erbliche Faktoren einen entscheidenden Einfluss auf Krankheitsempfänglichkeit und Verlauf. In den vergangenen Jahren konnten wichtige genetische Befunde bei der JIA erhoben werden:
1.Die Konkordanz bei Geschwistern ist bezüglich der Inzidenz relativ niedrig, jedoch bezüglich Subtyp und Verlauf hoch.
2.Die Subtypen der JIA haben unterschiedliche genetische Hintergründe.
3.Es gibt JIA-Patienten, die keines der bislang definierten Risikogene tragen.
4.Einige Formen der JIA haben einen klar von der rheumatoiden Arthritis des Erwachsenen abgrenzbaren genetischen Hintergrund.
5.Mehrere Faktoren beeinflussen die Pathogenese, wobei genetische und umweltbedingte Faktoren eine Rolle spielen.
6.Genetische Faktoren beeinflussen auch den Verlauf der Erkrankung, z. B. das Auftreten bestimmter Komplikationen.
7.Genetische Faktoren, die ein erhöhtes Therapierisiko vermitteln, müssen bei therapeutischen Entscheidungen berücksichtigt werden.
Das wachsende Wissen um genetische und expositionelle Faktoren bei der JIA ist für unser pathogenetisches Verständnis, die Klassifikation und die Therapieplanung von Bedeutung. Verbesserte Kenntnisse sind jedoch auch bei der Beantwortung von Fragen der Patienten und Angehörigen hilfreich. Diese adressieren den Wunsch nach besserem Krankheitsverständnis, einer Risikoabwägung für Geschwister und Kinder der Betroffenen und häufig auch Schuldgefühle. Eine behutsame und korrekte Information ist daher besonders erforderlich.

Abstract

Juvenile idiopathic arthritis (JIA) is not an inherited disease transmitted with a classical genetic pathway but genetic factors have reasonable influence on disease susceptibility. Within recent years, several factors have been defined affecting susceptibility and course of the disease. This review summarizes our current knowledge:
1.Affected siblings have a low concordant incidence of the disease, but a high concordance of its subtype and course.
2.Subtypes of JIA have different genetic backgrounds.
3.Some JIA patients do not carry any of the defined risk genes at all.
4.Most of the subtypes of JIA have a genetic background distinct from rheumatoid arthritis in adults.
5.There are multiple factors involved in the pathogenesis implying genetic and environmental factors.
6.Genetic factors are not only involved in disease susceptibility but also in the course of the disease and the occurrence of complications.
7.Genetic factors responsible for an increased risk of complications will have an increasing influence on therapeutic decisions.
Patients and their relatives frequently ask questions addressing the pathogenesis and the risk of disease transmission within the family. Moreover, parents frequently present with a guilty feeling. Physicians have to deal with all these issues thoroughly and with great empathy for the family’s situation. The knowledge of the factors involved in the pathogenesis of JIA has considerably progressed in the past decade but continues to remain a challenge.

Schlüsselwörter

Juvenile idiopathische Arthritis - Genetik - Vererbung - Risikofaktoren

Key words

Juvenile idiopathic arthritis - genetics - heridity - risk factors

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