Zeitschrift für Rheumatologie

, Volume 72, Issue 4, pp 332–338

Genetische Fiebersyndrome

Hereditäre rekurrierende (periodische) Fiebersyndrome
  • U. Neudorf
  • E. Lainka
  • T. Kallinich
  • D. Holzinger
  • J. Roth
  • D. Föll
  • T. Niehues
Leitthema

Zusammenfassung

Genetische Fiebersyndrome oder hereditäre rekurrierende Fiebersyndrome (HRF) werden als Teil der autoinflammatorischen Erkrankungen (AID) angesehen, die auf Störungen im angeborenen („innate“) Immunsystem beruhen. Typisch für diese Erkrankungen sind selbstlimitierte Episoden mit Fieber und hohen Entzündungszeichen. Der Vererbungsmodus kann sowohl autosomal-rezessiv als auch autosomal-dominant sein. Die Vertreter dieser Erkrankungen sind das familiäre Mittelmeerfieber, Tumornekrosefaktorrezeptor-1-assoziiertes periodisches Syndrom, Hyper-IgD-Syndrom und Cryopyrin-assoziierte periodische Syndrome. Die als „deficiency of interleukin 1 receptor antagonist“ beschriebene Erkrankung gehört nur bedingt in diese Krankheitsgruppe, da das Fieber kein typisches Symptom ist. Die Therapie hängt von der Art und Schwere der Erkrankung ab. Für das familiäre Mittelmeerfieber besteht eine effektive Prophylaxe mit Colchizin. Für schwere Formen der HRF-Erkrankungen ist die Therapie mit Biologika, insbesondere die Blockade von Il-1, hocheffektiv. Mit dem Ziel, mehr Informationen über diese Erkrankungen zu dokumentieren, eine Biobank einzurichten und Forschungsprojekte zu initiieren, wurde das AID-Net-Projekt gegründet, das vom Bundesministerium für Bildung und Forschung finanziert wird. In das Register sind bisher 606 Patienten mit AID eingeschleust worden, davon haben 381 ein HRF.

Schlüsselwörter

Autoinflammatorische Erkrankungen AID-Net Fieber Biobank Entzündungszeichen 

Abkürzungen

AID

Autoinflammatorische Erkrankungen

HRF

Hereditäre rekurrierende Fiebersyndrome

FMF

Familiäres Mittelmeerfieber

TRAPS

Tumornekrosefaktorrezeptor-1-assoziiertes periodisches Syndrom

HIDS

Hyper-IgD-Syndrom

CAPS

Cryopyrin-assoziiertes periodisches Syndrom

FCU

Familiäre Kälteurtikaria

FCAS

Familial cold autoinflammatory syndrome

MWS

Muckle-Wells-Syndrom

NOMID/CINCA

Neonatal onset of multisystemic inflammatory disease/chronic infantile neurological, cutaneous and articular syndrome

DIRA

Deficiency of interleukin 1 receptor antagonist

ESPED

Erhebungseinheit seltener pädiatrischer Erkrankungen in Deutschland

BMBF

Bundesministerium für Bildung und Forschung

PFAPA

Periodisches Fieber, Aphthen, Pharyngitis, Adenopathie-Syndrom

Genetic fever syndromes

Hereditary recurrent (periodic) fever syndromes

Abstract

Genetic fever syndromes or hereditary recurrent fever syndromes (HRF) are considered to be part of the autoinflammatory diseases (AID) which result from errors in the innate immune system. Patients typically have self-limiting episodes of fever and high levels of inflammation markers. The mode of inheritance is autosomal recessive or autosomal dominant. The diseases of the HRF include familial Mediterranean fever, tumor necrosis factor receptor 1-associated periodic syndrome, hyper-IgD syndrome and cryopyrin-associated periodic fever syndromes. The disease known as deficiency of interleukin 1 (IL1) receptor antagonist does not fully belong to this group because fever is not a typical symptom. The therapy depends on the type and severity of the disease. Effective prophylaxis is possible for FMF. Biologicals, especially IL1 blocking agents are highly effective in very severe fever syndromes. In order to collect more information on AID, to establish a biobank and coordinate research in this field the AID-Net project was founded. Currently 606 patients with AID are registered of whom 381 have HRF.

Keywords

Autoinflammatory diseases AID-Net Fever Biobank Inflammation signs 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • U. Neudorf
    • 1
  • E. Lainka
    • 1
  • T. Kallinich
    • 1
  • D. Holzinger
    • 1
  • J. Roth
    • 1
  • D. Föll
    • 1
  • T. Niehues
    • 1
  1. 1.Zentrum für Kinder- und JugendmedizinKlinik für Kinderheilkunde III – Bereiche Kardiologie und RheumatologieEssenDeutschland

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