Till sidans topp

Sidansvarig: Webbredaktion
Sidan uppdaterades: 2012-09-11 15:12

Tipsa en vän
Utskriftsversion

[APS I--a severe autoimmu… - Göteborgs universitet Till startsida
Webbkarta
Till innehåll Läs mer om hur kakor används på gu.se

Kontaktformulär








 


OBS! Vill du ha svar, ange e-post eller telefonnummer!




[APS I--a severe autoimmune disease with endocrine and non-endocrine symptoms]

Forskningsöversiktsartikel
Författare Jan Gustafsson
Mohammad Alimohammadi
Olov Ekwall
Gennet Gebre-Medhin
Maria Halldin-Stenlid
Håkan Hedstrand
Eva Landgren
Thomas Nilsson
Fredrik Rorsman
Filip Sköldberg
Ola Winqvist
Olle Kämpe
Publicerad i Läkartidningen
Volym 101
Nummer/häfte 24
Sidor 2096-8, 2101-3
ISSN 0023-7205
Publiceringsår 2004
Publicerad vid
Sidor 2096-8, 2101-3
Språk sv
Ämnesord Addison Disease, genetics, immunology, Adrenal Insufficiency, genetics, immunology, Adult, Alopecia, genetics, immunology, pathology, Autoantibodies, genetics, Candidiasis, Chronic Mucocutaneous, genetics, immunology, Child, Chromosomes, Human, Pair 21, genetics, Diabetes Mellitus, Type 1, genetics, immunology, Hepatitis, Autoimmune, genetics, immunology, Humans, Hypoparathyroidism, genetics, immunology, Malabsorption Syndromes, genetics, immunology, Polyendocrinopathies, Autoimmune, genetics, immunology, pathology, Vitiligo, genetics, immunology
Ämneskategorier Endokrinologi

Sammanfattning

Autoimmune polyglandular syndrome type I (APS I) is an autosomal recessive disorder characterized by a combination of autoimmune manifestations affecting endocrine and non-endocrine organs. APS I usually presents in childhood. The three most common manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. At least two of these must be present to fulfill the diagnostic criteria of this syndrome. The spectrum of other associated diseases includes gonadal insufficiency, alopecia, vitiligo and chronic active hepatitis. APS I is caused by a mutation in the AIRE-gene (autoimmune regulator) located on chromosome 21. Analysis of specific autoantibodies against intracellular enzymes, particularly enzymes in the synthesis of steroids and neurotransmittors, can be used in the diagnosis of APS I and to predict different manifestations of the disease.

Sidansvarig: Webbredaktion|Sidan uppdaterades: 2012-09-11
Dela:

På Göteborgs universitet använder vi kakor (cookies) för att webbplatsen ska fungera på ett bra sätt för dig. Genom att surfa vidare godkänner du att vi använder kakor.  Vad är kakor?