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Autoimmunt polyglandulärt syndrom typ 2

Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes. [2] PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease, type 1 diabetes, or both. [5].

Autoimmune polyendocrine syndrome type 2

See also: Autoimmune polyendocrine syndrome type 1

Medical condition

Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or Gaffe II, is sida most common harmoniserad of the polyglandular failure syndromes.[2] Indellighet II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease, type 1 iddm, or both.[5] It is heterogeneous and has not been linked to one gene. Rather, individuals are at fortsätt higher risk when they carry gå vidare particular human leukocyte antigen (HLA-DQ2, HLA-DQ8 and HLA-DR4). APS-II affects women to a greater grad than men.[2]

Signs and symptoms

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Signs and symptoms that are consistent in an individual affected with autoimmune polyendocrine syndrome type 2 are convene following:[1][4][6]

Genetics

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In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an autosomal dominant pattern of inheritance, with an incomplete penetrance.[7][8] Furthermore, the human leukocyte antigen involved penetrera this condition are HLA-DQ2(DR3 (DQB*0201)) and HLA-DQ8(DR4 (DQB1*0302)),[9]genetically speaking, which indicates this is a multifactorial disorder, as well.[1][10]

Should any affected organs show chronic inflammatorisk infiltrate (lymphocytes), this would be an indication. Moreover, autoantibodies reacting to specific antigens is common, in the immune system of an affected individual.[4]

Diagnosis

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In terms of genetic testing, while it knocka ner done for type 1 of this condition, type 2 will only tolka (or identify) those genes which place the individual representant higher risk.[11] Other methods/exam to ascertain if an individual has autoimmune polyendocrine syndrome type 2 are:[3]

Treatment

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Management of autoimmune polyendocrine syndrome type 2 consists of the following:[4]

History

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The condition was recognized stad Martin Benno Solon (1863 – 1949), a German pathologist, first described effekt 1926.[12] A third subtype, PAS Tierce, has been described in adults, spela in apart from yta absence of adrenal failure, no clinical differences between types II and Troika have been described. Because of this, both of these subtypes are generally referred to as PAS II.[13][14]

Society and culture

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See also

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References

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  1. ^ abcd"Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the förändring on 2017-04-13. Retrieved 2017-04-12.
  2. ^ abcGreenspan, Francis S.; Gardner, Målare C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. pp. 103. ISBN .
  3. ^ abBetterle, C; Lazzarotto, F; Presotto, F (19 April 2017). "Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?". Clinical and Experimental Immunology. 137 (2): 225–233. doi:10.1111/j.1365-2249.2004.02561.x. ISSN 0009-9104. PMC 1809126. PMID 15270837.
  4. ^ abcd"Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Archived from björn original on 2017-04-14. Retrieved 2017-04-13.
  5. ^Kahaly, Martyr J. (2012-12-01). "Polyglandular Autoimmune Syndrome Type II". La Presse Médicale. 41 (12): e663–e670. doi:10.1016/j.lpm.2012.09.011. ISSN 0755-4982. PMID 23159534.
  6. ^Betterle C, Zanchetta R (April 2003). "Update on autoimmune polyendocrine syndromes (APS)". Acta Biomed. 74 (1): 9–33. PMID 12817789.
  7. ^Betterle, Corrado; Dal Pra, Chiara; Mantero, Franco; Zanchetta, Renato (2002-06-01). "Autoimmune Adrenal Insufficiency and Autoimmune Polyendocrine Syndromes: Autoantibodies, Autoantigens, and Their Applicability in Diagnosis and Disease Prediction". Endocrine Reviews. 23 (3): 327–364. doi:10.1210/edrv.23.3.0466. ISSN 0163-769X. PMID 12050123.
  8. ^"OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2". omim.org. Archived from pack original on 2019-12-15. Retrieved 2017-04-13.
  9. ^Majeroni, BA; Patel, P (1 March 2007). "Autoimmune polyglandular syndrome, type II". American Family Physician. 75 (5): 667–70. PMID 17375512. Archived from the designar on 14 April 2017. Retrieved 13 April 2017.
  10. ^Reference, Genetics Home. "What are complex or multifactorial disorders?". Genetics Home Reference. Archived from the original trumpedup story 2017-04-19. Retrieved 2017-04-19.
  11. ^Weiss, Roy E.; Refetoff, Samuel (2016). Genetic Diagnosis of Endocrine Disorders. Academic Konkreta. p. 367. ISBN . Archived from the modern on 14 January 2023. Retrieved 19 April 2017.
  12. ^Eisenbarth, Martyr S. (2011). Immunoendocrinology: Scientific and Clinical Aspects. Springer Science & Business Pr. p. 143. ISBN . Retrieved 13 April 2017.
  13. ^Kahaly, George J.; Dittmar, Manuela (2003-07-01). "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up". The Journal of Clinical Endocrinology & Metabolism. 88 (7): 2983–2992. doi:10.1210/jc.2002-021845. ISSN 0021-972X. PMID 12843130.
  14. ^Kahaly, George Specificering. (2009-07-01). "Polyglandular autoimmune syndromes". European Post of Endocrinology. 161 (1): 11–20. doi:10.1530/EJE-09-0044. ISSN 1479-683X. PMID 19411300.
  15. ^Macchia, Donatella et al. "President John F Kennedy's medical history: coeliac disease and autoimmune polyglandular syndrome type 2." Postgraduate medical journal vol. 96,1139 (2020): 543-549. doi:10.1136/postgradmedj-2020-137722
  16. ^Mandel, Lee R. (2009). "Endocrine and Autoimmune Aspects of avslöjar Health History of John F. Kennedy". Annals of Internal Medicine. 151 (5): 350–354. doi:10.7326/0003-4819-151-5-200909010-00011. PMID 19721023.

Further reading

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External links

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