[Autoimmune polyglandular syndromes]

Internist (Berl). 2005 Jul;46(7):750-8. doi: 10.1007/s00108-005-1438-1.
[Article in German]

Abstract

Autoimmune polyglandular syndromes are rare autoimmune endocrinopathies, which can be also associated with non endocrine autoimmune diseases. The autoimmune polyglandular syndrome type I (autoimmune polyendocrinopathy-candidiasis ectodermal dystrophy; APECED) is distinguished from autoimmune polyglandular syndrome type 2 (APS-2). Main symptoms of APECED are adrenal insufficiency, hypoparathyroidism and candidiasis. The diagnosis is established when two out of three of these symptoms are present. APECED is associated with mutations of the autoimmune regulator gene (AIRE) and predominantly affects juvenile patients with a family background from Sardinia, Finland and Iranian Jews. The APS-2 is not AIRE associated. It is characterized by the presence of autoimmune thyroid disease, adrenal insufficiency and/or diabetes mellitus type I. APS-2 is more common than APECED and mainly affects adult women without any preference of a certain ethnic group. Therapy consists of hormone replacement therapy and treatment of clinical symptoms. In some APECED patients immunosuppressive therapy seems to be promising.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Candidiasis / diagnosis*
  • Candidiasis / epidemiology
  • Candidiasis / genetics*
  • Candidiasis / therapy
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Hypoparathyroidism / diagnosis*
  • Hypoparathyroidism / epidemiology
  • Hypoparathyroidism / genetics*
  • Hypoparathyroidism / therapy
  • Immunosuppressive Agents / therapeutic use
  • Male
  • Polyendocrinopathies, Autoimmune / diagnosis*
  • Polyendocrinopathies, Autoimmune / epidemiology
  • Polyendocrinopathies, Autoimmune / genetics*
  • Polyendocrinopathies, Autoimmune / therapy
  • Practice Guidelines as Topic
  • Practice Patterns, Physicians'
  • Renal Insufficiency / diagnosis*
  • Renal Insufficiency / epidemiology
  • Renal Insufficiency / genetics*
  • Renal Insufficiency / therapy
  • Syndrome

Substances

  • Immunosuppressive Agents