Addison's disease and auto-immunity

作者：Proust Lemoine Emmanuelle^*

来源：Correspondances en Metabolismes Hormones Diabetes et Nutrition, 2015, 19(1-2): 17-21.

• Addison's disease
• Auto-immunity
• Polyendocrinopathy
• Anti-21-hydroxylase antibodies
• HLA

The predominant cause in Caucasian populations of primary adrenal insufficiency (PAI) is auto-immunity.
Auto-immune PAI could be isolated, or associated with other auto-immune diseases. Auto-immune polyendocrinopathy type 1 (APS1) is a rare autosomic recessive disease caused by mutations in the AIRE gene (Auto-Immune REgulator). Affected individuals usually present in childhood chronic mucocutaneous candidiasis and auto-immune diseases.
Isolated auto-immune PAI and APS2 are more frequent, and often appear in the adulthood. They have a strong genetic component. Several disease-susceptibility alleles have been identified, including loci associated with organ-specific autoimmunity (HLA, CTLA4, PTPN22...).
Circulating antibodies directed against steroid 21-hydroxylase can be detected in around 85% of patients who have idiopathic PAI. Only patients with no associated autoimmune disease and no autoantibodies should undergo CT of the adrenal glands.

• 出版日期2015-2