Interdisziplinäre AWMF-Leitlinie zur Diagnostik von primären Immundefekten (S2k)

S. Farmand; U. Baumann; H. von Bernuth; M. Borte; E. Foerster-Waldl; K. Franke; P. Habermehl; P. Kapaun; G. Klock; J. Liese; R. Marks; R. Müller; T. Nebe; T. Niehues; V. Schuster; K. Warnatz; T. Witte; S. Ehl; I. Schulze

doi:10.1055/s-0031-1287835

Klinische Pädiatrie, Inhaltsverzeichnis

Klin Padiatr 2011; 223(06): 378-385
DOI: 10.1055/s-0031-1287835

Bericht

Interdisziplinäre AWMF-Leitlinie zur Diagnostik von primären Immundefekten (S2k)

Interdisciplinary AWMF Guideline for the Diagnostics of Primary Immunodeficiency

S. Farmand

¹Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg

²Zentrum für Chronische Immundefizienz, Universitätsklinikum Freiburg

,

U. Baumann

³Pädiatrische Pneumologie, Allergologie und Neonatologie, Medizinische Hochschule Hannover

,

H. von Bernuth

⁴Klinik für Kinderheilkunde mit Schwerpunkt Pneumologie und Immunologie, Universitätskinderklinik der Charité Berlin

,

M. Borte

⁵ Klinik für Kinder- und Jugendmedizin, Fachbereich Pädiatrische Rheumatologie, Immunologie und Infektiologie, Klinikum St. Georg gGmbH, Leipzig

,

E. Foerster-Waldl

⁶Universitätsklinik für Kinder- und Jugendheilkunde, Ambulanz für Störungen der Immunabwehr, Medizinische Universität Wien

,

K. Franke

⁷St. Marien-Krankenhaus gemGmbH, Siegen

,

P. Habermehl

⁸Kinderarztpraxis, Mainz-Hechtsheim

,

P. Kapaun

⁹Kinderarztpraxis, Hamburg

,

G. Klock

¹⁰dsai, Regionalgruppe Frankfurt, Fachbereich Chemie, Technische Universität Kaiserslautern

,

J. Liese

¹¹Pädiatrische Infektiologie und Immunologie, Universitätskinderklinik Würzburg

,

R. Marks

¹²Kompetenzzentrum Leukämien und Präleukämien, Universitätsklinikum Freiburg

,

R. Müller

¹³Klinik und Poliklinik für HNO-Heilkunde, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden

,

T. Nebe

¹⁴Hämatologisches Speziallabor, MVZ Onkologikum, Frankfurt/Main

,

T. Niehues

¹⁵Zentrum für Kinder- und Jugendmedizin, HELIOS Klinikum Krefeld

,

V. Schuster

¹⁶Universitätsklinik für Kinder- und Jugendliche, Universitätsklinikum Leipzig

,

K. Warnatz

²Zentrum für Chronische Immundefizienz, Universitätsklinikum Freiburg

,

T. Witte

¹⁷Klinik für Immunologie und Rheumatologie, Medizinische Hochschule Hannover

,

S. Ehl

¹Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg

,

I. Schulze

¹Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg

› Institutsangaben

Abstract

Zusammenfassung

Hintergrund:

Primäre Immundefekte sind potenziell lebensbedrohliche Erkrankungen. Auch wenn in den letzten Jahren zunehmend mehr immunologische Defekte klinisch und molekulargenetisch charakterisiert wurden, so werden primäre Immundefekt in der täglichen Praxis oftmals noch zu spät erkannt. Vor dem Hintergrund, dass eine frühe Diagnosestellung die Morbidität und Mortalität der betroffenen Patienten senken kann, wurde daher im Auftrag der Arbeitsgemeinschaft Pädiatrische Immunologie (API) und der Deutschen Gesellschaft für Immunologie (DGfI) eine interdisziplinäre S2-Leitlinie zur Diagnostik von Primären Immundefekten erstellt.

Methodik:

Grundlage der Leitlinie sind im Wesentlichen Expertenmeinungen auf der Basis bereits verfügbarer Leitlinien und Empfehlungen aus Deutschland und anderen Ländern, ergänzt durch Daten aus Studien, die die getroffenen Kernaussagen unterstützen (Evidenzgrad III). Unter Beteiligung von 20 Vertretern aus 14 Fachgesellschaften, Verbänden und Vereinigungen entstand eine konsensbasierte Leitlinie mit repräsentativer Entwicklergruppe und strukturierter Konsensusfindung (S2k). Der nominale Gruppenprozess zur Konsensusfindung fand unter Moderation einer Vertreterin der Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften (e.V.) (AWMF) im April 2011 statt.

Ergebnisse:

Die aufgestellten Kernaussagen wurden diskutiert und im strukturierten Konsensverfahren abgestimmt. Insbesondere wurden modifizierte Warnzeichen für primäre Immundefekte formuliert und immunologische Notfallsituationen definiert.

Abstract

Background:

Primary immunodeficiencies are potentially life-threatening diseases. Over the last years, the clinical phenotype and the molecular basis of an increasing number of immunological defects have been characterized. However, in daily practice primary immunodeficiencies are still often diagnosed too late. Considering that an early diagnosis may reduce morbidity and mortality of affected patients, an interdisciplinary guideline for the diagnosis of primary immunodeficiencies was developed on behalf of the Arbeitsgemeinschaft Pädiatrische Immunologie (API) and the Deutsche Gesellschaft für Immunologie (DGfI).

Methods:

The guideline is based on expert opinion and on knowledge from other guidelines and recommendations from Germany and other countries, supplemented by data from studies that support the postulated key messages (level of evidence III). With the contribution of 20 representatives, belonging to 14 different medical societies and associations, a consensus-based guideline with a representative group of developers and a structured consensus process was created (S2k). Under the moderation of a representative of the Association of the Scientific Medical Societies in Germany (AWMF) the nominal group process took place in April 2011.

Results:

The postulated key messages were discussed and voted on following a structured consensus procedure. In particular, modified warning signs for primary immunodeficiencies were formulated and immunological emergency situations were defined.

Schlüsselwörter

primäre Immundefekte - Leitlinie - Diagnostik - Warnzeichen - Kinder - Erwachsene

Key words

primary immunodeficiency - guideline - diagnostics - warning signs - children - adults

Volltext

Referenzen

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