The Full Wiki

Autoimmune polyendocrine syndrome: Wikis

Advertisements
  

Note: Many of our articles have direct quotes from sources you can cite, within the Wikipedia article! This article doesn't yet, but we're working on it! See more info or our list of citable articles.

Encyclopedia

From Wikipedia, the free encyclopedia

Autoimmune polyendocrine syndrome
Classification and external resources
ICD-10 E31.0
ICD-9 258.1
OMIM 240300 269200
DiseasesDB 29212 29690
eMedicine med/1867 med/1868
MeSH D016884

In medicine, autoimmune polyendocrine syndromes are a heterogeneous group[1] of rare diseases characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected.

There are three "autoimmune polyendocrine syndromes", and a number of other diseases which have endocrine autoimmunity as one of their features.

Contents

The syndromes

  • Autoimmune polyendocrine syndrome type 1
  • Autoimmune polyendocrine syndrome type 2
  • The most serious but rarest form is the X-linked polyendocrinopathy, immunodeficiency and diarrhea-syndrome, also called XLAAD (X-linked autoimmunity and allergic dysregulation) or IPEX (immune dysfunction, polyendocrinopathy, and enteropathy, X-linked). This is due to mutation of the FOXP3 gene on the X chromosome.[2] Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.

Other diseases

Other diseases featuring polyendocrine autoimmunity:

Management

In principle, the component diseases are managed as usual. The challenge is to detect the possibility of any of the above syndromes, and to anticipate other manifestations. For example, in a patient with known Type 2 autoimmune polyendocrine syndrome but no features of Addison's disease, regular screening for antibodies against 21-hydroxylase (a feature of Addison's) may prompt early intervention and hydrocortisone replacement to prevent characteristic crises.

References

  1. ^ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.  
  2. ^ Yong PL, Russo P, Sullivan KE (May 2008). "Use of Sirolimus in IPEX and IPEX-Like Children". J. Clin. Immunol. 28: 581. doi:10.1007/s10875-008-9196-1. PMID 18481161.  
Advertisements

Advertisements






Got something to say? Make a comment.
Your name
Your email address
Message