[Autoimmune multiglandular syndrome type I--a case study].
We have described a case of a rare autoimmune disease, called autoimmune polyglandular syndrome type I (APS type I), in a 44-year-old woman. APS type I is an autosomal recessively inherited disorder, connected with mutations in AIRE (autoimmune regulator) gene. Subsequently, autoantibodies directed towards tissue-specific enzymes are produced, which causes destruction of multiple tissues and organs, first of all--endocrine glands. In the described woman, primary hypoparathyroidism occurred in childhood. Addison disease, chronic candidiasis of the nails and vitiligo developed in adolescence. Before she was 30, a premature ovarian failure, and axilla and pubis alopecia occurred. The last recognized disorders were cholelithiasis and candidiasis of oesophagus. The late diagnosis resulted in numerous complications of the disease and the patient's life quality impairment.
Dunajska
Katarzyna
K
Zakład Promocji Zdrowia i Higieny Akademii Wychowania Fizycznego we Wrocławiu. dunajska@mp.pl
Szymczak
Jadwiga
J
D000328:Adult; D000505:Alopecia / Q000150:complications / Q000503:physiopathology; D001323:Autoantibodies / Q000235:genetics / Q000276:immunology; D002177:Candidiasis / Q000150:complications / Q000382:microbiology; D004562:Electrocardiography; D005260:Female; D005836:Genitalia, Female; D006197:Hair / Q000503:physiopathology; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications; D009262:Nails / Q000382:microbiology; D017354:Point Mutation / Q000235:genetics; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000235:genetics* / Q000276:immunology; D014820:Vitiligo / Q000150:complications
D001323:Autoantibodies