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Dtsch Med Wochenschr 2013; 138(07): 319-330
DOI: 10.1055/s-0032-1327355
CME | Review article
Endokrinologie
© Georg Thieme Verlag KG Stuttgart · New York

Autoimmune polyglanduläre Syndrome

Autoimmune polyglandular syndromes
M. P. Hansen
1   I. Medizinische Klinik und Poliklinik, SP Endokrinologie, Universitätsmedizin Mainz der Johannes Gutenberg-Universität
,
G. J. Kahaly
1   I. Medizinische Klinik und Poliklinik, SP Endokrinologie, Universitätsmedizin Mainz der Johannes Gutenberg-Universität
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Further Information

Publication History

06 July 2012

25 October 2012

Publication Date:
07 February 2013 (online)

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Zusammenfassung

Unter einem autoimmunen polyglandulären Syndrom (APS) versteht man die Manifestation von mindestens zwei endokrinen Erkrankungen autoimmuner Genese. Um der Diversität der einzelnen Krankheitsentitäten und der Ausprägungsmuster Rechnung zu tragen, unterteilt man das APS in einen seltenen juvenilen Typ (APS I) monogenetischer Ätiologie und einen häufigeren adulten Typ multifaktorieller Genese, mit kombinationsspezifischen Untergruppen (APS II-IV). Besondere klinische Relevanz haben die frühzeitige Diagnose, die individuelle Therapieanpassung und ein Screening von Risikopatienten. Die Diagnose des APS umfasst neben der Anamnese serologische Messungen organspezifischer Antikörper sowie klinische Untersuchungen und Funktionstests. Im Rahmen eines Screenings kann der Nachweis von Mutationen immunologisch-modifizierender, Zytokine-kodierender und gewebespezifischer Gene von Bedeutung sei. Obwohl das autoimmune polyglanduläre Syndrom mit einer Inzidenz von 1:100 000 (juveniles APS) bzw. 1:20 000 (adultes APS) eine relativ seltene Erkrankung ist, muss man rechtzeitig an die Möglichkeit eines APS denken, sodass z. T. lebensgefährliche Komplikationen vermieden und Lebensqualitäten physisch wie psychisch sichergestellt werden können.

Abstract

The autoimmune polyglandular syndrome (APS) is defined as the manifestation of at least two endocrine autoimmune diseases. In order to take the wide spectrum of components and the variations of the disease fully into account, APS is usually divided up into the rare juvenile type (APS I) and the more common adult type (APS II-IV). APS I is caused by a monogenetic mutation whereas APS II-IV has a multifactorial genesis with combination related subgroups. Early diagnosis, individual adjustment of therapy and screening of high risk patients in particular are regarded as clinically relevant. In addition to the patient’s history, the diagnosis of APS encompasses serologic measurement of organ-specific autoantibodies as well as a clinical examination and functional tests. However, the analysis of immunological modificating, zytokine-coding and tissue-specific genes could also be important within a screening. Although APS is a rather rare disease with an incidence of 1:100 000 (juvenile APS) and 1:20 000 (adult APS), the possibility of an autoimmune polyglandular syndrome should be timely considered. By this means, severe complications can be avoided to some extent and the patients’ physical as well as psychological quality of life can be ensured.

Schlüsselwörter

autoimmunes polyglanduläres Syndrom - juveniles und adultes APS - Autoantikörper - Screening

Keywords

autoimmune polyglandular syndrome - juvenile and adult APS - autoantibodies - screening
 

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