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Polyglanduläre Autoimmunsyndrome

Polyglandular autoimmune syndromes

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Zusammenfassung

Polyglanduläre Autoimmunsyndrome (PGA) sind eine Gruppe heterogener Erkrankungen, bei denen durch eine genetisch bedingte Störung des Immunsystems eine Schädigung endokriner Drüsen mit anschließendem Funktionsverlust stattfindet. Zudem sind oft zusätzlich auch nichtendokrine Autoimmunkrankheiten vorhanden. Aufgrund unterschiedlicher Vererbungsmuster und Krankheitsmanifestationen wird zwischen dem juvenilen PGA (auch APECED, „autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy“) mit monogenetischer Veränderung des AIRE („autoimmune regulator“)-Gens, stark unterschiedlicher ethnischer Verteilung und typischer Krankheits-Trias und dem adulten PGA, das v. a. durch Veränderungen der HLA („human leukocyte antigen“)-Allele auf Chromosom 6 bedingt ist, unterschieden. Kurz wird auf das seltene IPEX („immune dysfunction, polyendocrinopathy, enteropathy, x-linked“)-Syndrom eingegangen, bei dem das X-chromosomale FOXP3 („forkhead box P3“)-Gen verändert ist. Bei der Diagnose spielen neben der Klinik v. a. Funktionstests der endokrinen Drüsen und Antikörperbestimmung eine Rolle, bei PGA I und IPEX sind auch genetische Testungen sinnvoll. Therapeutisch ist heute die dem Patienten angepasste Hormonersatztherapie von entscheidender Bedeutung; familiäres Screening wird empfohlen.

Abstract

Polyglandular autoimmune syndromes (PGA) are a heterogeneous group of diseases in which a genetically caused dysfunction of the immune system leads to a destruction of endocrine glands with subsequent loss of function. In addition non-endocrine autoimmune diseases are also frequently present. Due to different patterns of inheritance and occurrence of disease a differentiation is made between juvenile PGA (also called APECED, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) with a monogenetic alteration of the AIRE (autoimmune regulator) gene, different ethnic distribution and a typical triad of diseases and the adult form, mainly conditioned by mutations of the HLA (human leukocyte antigens) alleles on chromosome 6. The article will briefly deal with the very rare IPEX (immune dysfunction, polyendocrinopathy, enteropathy, x-linked) syndrome, where the FOXP3 gene on chromosome X is altered. Important for the diagnosis are the clinical appearance and functional tests of the endocrine glands and the testing for antibodies. Additionally for PGA I and IPEX genetic testing is advisable. Currently patient-adjusted hormone replacement therapy is very important and screening of family members is recommended.

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Authors and Affiliations

  1. I. Medizinische Klinik und Poliklinik, Universitätsmedizin Mainz, Langenbeckstr. 1 , 55131, Mainz, Deutschland

    A. Maurer, A. Schwarting & G.J. Kahaly

  2. Sana-Rheumazentrum Rheinland-Pfalz, Bad Kreuznach, Bad Kreuznach, Deutschland

    A. Schwarting

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  1. A. Maurer
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Correspondence to A. Schwarting.

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Maurer, A., Schwarting, A. & Kahaly, G. Polyglanduläre Autoimmunsyndrome. Z. Rheumatol. 70, 752–759 (2011). https://doi.org/10.1007/s00393-011-0786-6

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