Das polyglanduläre Autoimmunsyndrom Typ II: Epidemiologie und Manifestationsformen

Forster, G; Krummenauer, F; Kühn, I.; Beyer, Judith; Kahaly, George J.

doi:10.1055/s-2008-1035684

Cited by 49 publications

(58 citation statements)

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“…The juvenile PAS type I shows a monogenetic inheritance, whereas multiple genes contribute to the etiopathogenesis of the adult PAS [3,4]. Based on the various combinations of autoimmune endocrinopathies, the adult PAS is subdivided into the types II-IV [5,6]. Patients with PAS are at high risk for developing non-glandular autoimmune diseases [7] (Table 1).…”

Section: Definition and Classificationmentioning

confidence: 99%

Polyglandular autoimmune syndromes

Kahaly

Frommer

2017

J Endocrinol Invest

130

101

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Section: Definition and Classificationmentioning

confidence: 99%

Polyglandular autoimmune syndromes

Kahaly

Frommer

2017

J Endocrinol Invest

130

101

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“…There is familial clustering and family members of patients are often affected (2). While there is some correlation between the ages of onset of one PAS illness with another, many years may separate the onset of different diseases (7). All the disorders resulting in tissue destruction appear to have a prolonged phase of cellular loss preceding overt autoimmune glandular disease.…”

Section: Definition and Epidemiologymentioning

confidence: 99%

Polyglandular autoimmune syndromes

Kahaly

2009

European Journal of Endocrinology

206

106

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The polyglandular autoimmune syndromes (PAS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (PAS type I) and a relatively common adult type with (PAS II) or without adrenal failure (PAS III). First clinical manifestation of PAS I usually occurs in childhood, whereas PAS II mostly occurs during the third and fourth decades. PAS I is caused by mutations in the autoimmune regulatory (AIRE) gene on chromosome 21 and is inherited in an autosomal recessive manner. Mutations in the AIRE gene result in defect proteins which cause autoimmune destruction of target organs by disturbing the immunological tolerance of the patients. Genetic testing may identify patients with PAS I, but not those with PAS II/III. For PAS II/III, susceptibility genes are known which increase the risk for developing autoimmune disorders, but must not be causative. These are certain HLA genes, the cytotoxic T lymphocyte antigen gene, and the protein tyrosine phosphatase nonreceptor type 22 gene on chromosomes 6, 2 and 1 respectively. Actual diagnosis of PAS involves serological measurement of organ-specific autoantibodies and subsequent functional testing. Management of patients with PAS including their family relatives is best performed in centres with special expertise in autoimmune endocrine disorders.

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“…It affects mainly adult women, The mean age at presentation is 35 years [4,5]. The female to male ratio is 3-4:1.…”

Section: Discussionmentioning

confidence: 99%