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Autoimmune polyendocrine syndrome type 1

autoimmune polyendocrine syndrome type 1, autoimmune polyendocrine syndrome type 1 (aps‐1)
Autoimmune polyendocrine syndrome type 1 APS-1, also known as autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia APECED, autoimmune polyglandular syndrome type 1, Whitaker syndrome,1 or candidiasis-hypoparathyroidism–Addison's disease syndrome,2 is a subtype of autoimmune polyendocrine syndrome autoimmune polyglandular syndrome in which multiple endocrine glands dysfunction as a result of autoimmunity It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the AIRE gene autoimmune regulator, which is located on chromosome 21 and normally confers immune tolerance345

Contents

  • 1 Signs and symptoms
  • 2 Genetics
  • 3 Pathophysiology
  • 4 Diagnosis
  • 5 Treatment
  • 6 See also
  • 7 References
  • 8 Further reading
  • 9 External links

Signs and symptomsedit

Autoimmune polyendocrine syndrome type 1 symptoms and signs include the following:6

  • Hypoparathyroidism
  • Hypogonadism
  • Vitiligo
  • Alopecia
  • Malabsorption
  • Anemia
  • Cataract
  • Adrenal hyperplasia

Geneticsedit

Chr 21

Autoimmune polyendocrine syndrome type 1 is a condition caused in an autosomal recessive mannerFurthermore, it is due to a defect in AIRE genewhich helps to make a protein that is called the autoimmune regulator mapped to 21q223 chromosome location, hence chromosome 21347

Pathophysiologyedit

In autoimmune polyendocrine syndrome type 1 mechanism one finds that the maintenance of immunological tolerance plays a role8 Furthermore, upon looking at the AIRE gene,one finds at least 90 mutations in the gene, in those affected with this conditionmedical citation needed

Autoimmune polyendocrine syndrome type 1 mechanism also indicates that affected individuals autoantibodies have considerable reactions with both interferon-omega and interferon alpha1

Diagnosisedit

Endoscope

In terms of diagnosis for this condition, the following methods/tests are available:1

  • Endoscopic
  • CT scan
  • Serum endocrine autoantibody screen
  • Histologic test

Treatmentedit

Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is:9

  • Hormone replacement
  • Systemic antifungal treatment
  • Immunosuppressive treatment

See alsoedit

  • Autoimmune polyendocrine syndrome type 2
  • IPEX syndrome
  • Autoimmune polyendocrine syndrome

Referencesedit

  1. ^ a b c "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology" Medscape Retrieved 2009-04-17 
  2. ^ Greenspan, Francis S; Gardner, David C 2004 Basic clinical endocrinology New York: McGraw-Hill p 103 ISBN 0-07-140297-7 
  3. ^ a b Reference, Genetics Home "AIRE gene" Genetics Home Reference Retrieved 2017-04-04 
  4. ^ a b Reference, Genetics Home "APECED" Genetics Home Reference Retrieved 2017-04-04 
  5. ^ Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M Eric 2010-06-08 Diagnostic Criteria in Autoimmune Diseases Springer Science & Business Media p 265 ISBN 9781603272858 
  6. ^ "Autoimmune polyglandular syndrome type 1 | Genetic and Rare Diseases Information Center GARD – an NCATS Program" rarediseasesinfonihgov Retrieved 2017-04-11 
  7. ^ "Autoimmune Polyglandular Syndrome Type 1 APS-1 | NIH: National Institute of Allergy and Infectious Diseases" wwwniaidnihgov Retrieved 2017-04-16 
  8. ^ De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; D’Elia, Federica; Di Mase, Raffaella; D’Assante, Roberta; D’Acunzo, Ida; Pignata, Claudio; Salerno, Mariacarolina 2013-10-23 "APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors" Frontiers in Immunology 4 ISSN 1664-3224 PMID 24167503 doi:103389/fimmu201300331 
  9. ^ RESERVED, INSERM US14 -- ALL RIGHTS "Orphanet: Autoimmune polyendocrinopathy type 1" wwworphanet Retrieved 2017-04-22 

Further readingedit

  • De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; Lorello, Paola; Ungaro, Carla; Di Mase, Raffaella; Cirillo, Emilia; Pignata, Claudio; Salerno, Mariacarolina 1 January 2016 "Novel Findings into AIRE Genetics and Functioning: Clinical Implications" Frontiers in Pediatrics 4: 86 doi:103389/fped201600086 Retrieved 20 April 2017 
  • Peterson, P; Pitakanen, J; Sillanpaa, N; Krohn, K 2004 "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy APECED: a model disease to study molecular aspects of endocrine autoimmunity" Clinical and Experimental Immunology 135 3: 348–357 PMC 1808970  PMID 15008965 doi:101111/j1365-2249200402384x 
  • Capalbo, Donatella; De Martino, Lucia; Giardino, Giuliana; Di Mase, Raffaella; Di Donato, Iolanda; Parenti, Giancarlo; Vajro, Pietro; Pignata, Claudio; Salerno, Mariacarolina 2012 "Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation" International Journal of Endocrinology 2012: 1–9 doi:101155/2012/353250 

External linksedit

  • PubMed

autoimmune polyendocrine syndrome type 1, autoimmune polyendocrine syndrome type 1 (aps‐1), autoimmune polyendocrine syndrome type 1 symptoms


Autoimmune polyendocrine syndrome type 1 Information about

Autoimmune polyendocrine syndrome type 1


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    Autoimmune polyendocrine syndrome type 1 beatiful post thanks!

    29.10.2014


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