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Autoimmune polyendocrine syndrome

autoimmune polyendocrine syndrome, autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrine syndromes APSs, also called autoimmune polyglandular syndromes APSs, polyglandular autoimmune syndromes PGASs,1 or polyendocrine autoimmune syndromes, are a heterogeneous group2 of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affectedThere 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 autoimmunity345

Contents

  • 1 Types
  • 2 Cause
  • 3 Diagnosis
    • 31 Differential diagnosis
  • 4 Management
  • 5 See also
  • 6 References
  • 7 Further reading
  • 8 External links

Typesedit

  • Autoimmune polyendocrine syndrome type 1 3
  • Autoimmune polyendocrine syndrome type 26
  • The third form is the X-linked polyendocrinopathy, immunodeficiency and diarrhea-syndrome, called IPEX syndrome This is due to mutation of the FOXP3 gene on the X chromosome Most develop diabetes and diarrhea and many die due to autoimmune activity against many organs Boys are affected, while girls are carriers and might suffer mild disease78

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 Xp1123, is involved in the mechanism of the IPEX condition910

Diagnosisedit

CT scan

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

  • Endoscopic
  • CT scan
  • Histologic test

Differential diagnosisedit

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

  • CD25 deficiency
  • STAT5b deficiency
  • Severe immunodeficiencycombined
  • X-linked thrombocytopenia

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 conditions3 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 crisesmedical citation needed

See alsoedit

  • FOXP3
  • AIRE gene
  • Immunosuppression

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 PMID 15141045 doi:101056/NEJMra030158 
  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" rarediseasesinfonihgov 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" rarediseasesinfonihgov 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" wwworphanet 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 ISSN 0004-2730 doi:101590/S0004-27302012000100009 

Further readingedit

  • Improda, Nicola; Capalbo, Donatella; Cirillo, Emilia; Cerbone, Manuela; Esposito, Andrea; Pignata, Claudio; Salerno, Mariacarolina 1 November 2014 "Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature" BMC Pediatrics 14: 272 ISSN 1471-2431 PMID 25361846 doi:101186/1471-2431-14-272  |access-date= requires |url= help
  • Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M Eric 2008 Diagnostic Criteria in Autoimmune Diseases Springer Science & Business Media ISBN 9781603272858 

External linksedit

  • PubMed

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Autoimmune polyendocrine syndrome


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    Autoimmune polyendocrine syndrome beatiful post thanks!

    29.10.2014


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