[Polyglandular autoimmune syndromes].
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.
I. Medizinische Klinik und Poliklinik, Universitätsmedizin Mainz, Deutschland.
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Maurer
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Schwarting
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Kahaly
D000328:Adult; D003940:Diagnostic Techniques, Endocrine; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D020249:Hormone Replacement Therapy; D006801:Humans; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy