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Autoimmune polyendocrine syndrome

Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes (APSs), polyglandular autoimmune syndromes (PGASs),[1] or polyendocrine autoimmune syndromes, are a heterogeneous group[2] of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected.There are three types of APS or (in terms that mean the same thing) three APSs, and there are a number of other diseases which have endocrine autoimmunity.[3][4][5]

Autoimmune polyendocrine syndrome
PBB Protein AIRE image.jpg
Protein AIRE(from AIRE gene which causes Autoimmune polyendocrine syndrome type 1)
Classification and external resources
Specialty endocrinology
ICD-10 E31.0
ICD-9-CM 258.1
OMIM 240300 269200
DiseasesDB 29212 29690
eMedicine med/1867 med/1868
MeSH D016884

Contents

TypesEdit

CauseEdit

Each "type" of this condition has a different cause, in terms of IPEX syndrome is inherited in males by an x-linked recessive process. FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of the IPEX condition.[9][10]

DiagnosisEdit

 
CT scan

Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:[3]

Differential diagnosisEdit

For this condition, differential diagnosis sees that the following should be considered:[11]

ManagementEdit

 
Ketoconazole

Immunosuppressive therapy may be used in type I of this condition,[12] ketoconazole can be used for autoimmune polyendocrine syndrome type I under certain conditions[3] The component diseases are managed as usual, the challenge is to detect the possibility of any of the syndromes, and to anticipate other manifestations. For example, in a person with known Type 2 autoimmune polyendocrine syndrome but no features of Addison's disease, regular screening for antibodies against 21-hydroxylase may prompt early intervention and hydrocortisone replacement to prevent characteristic crises[medical citation needed]

See alsoEdit

ReferencesEdit

  1. ^ "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up". Retrieved 1 July 2013. 
  2. ^ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045. 
  3. ^ a b c d "Type I Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-01-06. 
  4. ^ "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03. 
  5. ^ "Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03. 
  6. ^ "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-04-20. 
  7. ^ Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Retrieved 2017-04-20. 
  8. ^ "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-04-20. 
  9. ^ Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Retrieved 2017-05-11. 
  10. ^ Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Retrieved 2017-05-11. 
  11. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome". www.orpha.net. Retrieved 2017-05-11. 
  12. ^ Weiler, Fernanda Guimarães; Dias-da-Silva, Magnus R.; Lazaretti-Castro, Marise (2012-02-01). "Autoimmune polyendocrine syndrome type 1: case report and review of literature". Arquivos Brasileiros de Endocrinologia & Metabologia. 56 (1): 54–66. doi:10.1590/S0004-27302012000100009. ISSN 0004-2730. 

Further readingEdit

External linksEdit