APSI - svår autoimmun sjukdom med endokrina och icke-endokrina symtom

• 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.

Nyckelord

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

English Abstract

Hepatitis; Autoimmune/genetics/immunology

Humans

Hypoparathyroidism/genetics/immunology

Malabsorption Syndromes/genetics/immunology

Polyendocrinopathies; Autoimmune/genetics/immunology/pathology

Vitiligo/genetics/immunology

MEDICINE

MEDICIN

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