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Genetische Fiebersyndrome

Hereditäre rekurrierende (periodische) Fiebersyndrome

Genetic fever syndromes

Hereditary recurrent (periodic) fever syndromes

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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.

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.

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Abb. 1

Abbreviations

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

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Danksagung

Wir bedanken uns bei allen am AID-Net teilnehmenden Zentren: RWTH Aachen – Klaus Tenbrock; Berlin Charité – Tilmann Kallinich, HELIOS Berlin Buch – Ralf Trauzeddel; St. Josef Hospital Bochum – Eggert Lilienthal; Klinikum Bremen Mitte – Frank Weller; Vestische Kinderklinik Datteln – Thomas Berger; Klinikum Dortmund – Jens Berrang; Dresden – Carolin Winkel; HHU Düsseldorf – Petra Lankisch; UKE Erlangen – M. Metzler; Clementine Hospital Frankfurt – Christoph Rietschel; Rheumakinderklinik Garmisch-Partenkirchen – Nadine Fischer; Hamburg – UKE Christine Kamlah, Eilbeck – Ivan Földvari, Asklepios Klinik Altona – R.M. Küster; MHH Hannover – Frank Dressler; Uni Heidelberg – Thomas Lutz; Marienhospital Herne – Arnd Giese; Uni Innsbruck – Jürgen Brunner; HELIOS Krefeld – Gregor Dückers; St. Marien Kinderklinik Landshut – Rainer Berendes; Ev. Krankenhaus Lippstadt – Hoffmann; St. Elisabeth Lörrach; Kinderrheumatologie Lüneburg – Nils Onken; LMU München – Annette Jansson; UKE Münster – Kristina Marketon; Cnopf’sche Kinderklinik Nürnberg – Ricardo Menéndes; St. Josef Stift Sendenhorst – Gerd Ganser; Asklepios St. Augustin – Gerd Horneff; Olgahospital Stuttgart – Anton Hospach; Uni Tübingen – Jasmin Kümmerle-Deschner.

Interessenkonflikt

Der korrespondierende Autor weist für sich und seine Koautoren auf folgende Beziehungen hin: Honorare für Vorträge von Roche/Chugai.

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  1. Zentrum für Kinder- und Jugendmedizin, Klinik für Kinderheilkunde III – Bereiche Kardiologie und Rheumatologie, Hufelandstr. 55, 45122, Essen, Deutschland

    U. Neudorf, E. Lainka, T. Kallinich, D. Holzinger, J. Roth, D. Föll & T. Niehues

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  1. U. Neudorf
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  2. E. Lainka
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  3. T. Kallinich
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  4. D. Holzinger
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  5. J. Roth
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  6. D. Föll
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  7. T. Niehues
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Correspondence to U. Neudorf.

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Neudorf, U., Lainka, E., Kallinich, T. et al. Genetische Fiebersyndrome. Z. Rheumatol. 72, 332–338 (2013). https://doi.org/10.1007/s00393-012-1061-1

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