Medicine:Autoimmune polyendocrine syndrome
|Autoimmune polyendocrine syndrome|
|Other names||Autoimmune polyglandular syndromes (APSs)|
|The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional)|
APS type 2,
|Causes||FOXP3 gene is involved in the mechanism |
|Diagnostic method||Endoscopic, CT scan|
|Treatment||Depends on type|
Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs) or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group 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, and there are a number of other diseases which involve endocrine autoimmunity.
- Autoimmune polyendocrine syndrome type 1, an autosomal recessive syndrome due to mutation of the AIRE gene resulting in hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, candidiasis and others.
- Autoimmune polyendocrine syndrome type 2, an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes.
- Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might experience mild disease.
Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an X-linked recessive process. The FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of the IPEX condition.
Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:
- CT scan
- Histologic test
For this condition, differential diagnosis sees that the following should be considered:
- CD25 deficiency
- STAT5B deficiency
- Severe combined immunodeficiency
- X linked thrombocytopenia
Immunosuppressive therapy may be used in type I of this condition. Ketoconazole can also be used for type I under certain conditions.
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
- ↑ 1.0 1.1 Reference, Genetics Home. "FOXP3 gene" (in en). https://ghr.nlm.nih.gov/gene/FOXP3#conditions.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Type I Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-01-06. http://emedicine.medscape.com/article/124183-overview.
- ↑ Dittmar, Manuela; Kahaly, George J. (2003). "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. PMID 12843130.
- ↑ "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. 2004. doi:10.1056/NEJMra030158. PMID 15141045.
- ↑ Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-05-03. http://emedicine.medscape.com/article/124398-overview.
- ↑ Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-05-03. http://emedicine.medscape.com/article/124287-overview.
- ↑ "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/7611/index.
- ↑ "IPEX syndrome" (in en). https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome#inheritance.
- ↑ "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/1850/index.
- ↑ Wildin, R. S.; Smyk-Pearson, S.; Filipovich, A. H. (1 August 2002). "Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome" (in en). Journal of Medical Genetics 39 (8): 537–545. doi:10.1136/jmg.39.8.537. ISSN 0022-2593. PMID 12161590.
- ↑ Reference, Genetics Home. "IPEX syndrome" (in en). https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome#inheritance.
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome" (in en). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042.
- ↑ 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. PMID 22460196.
- 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. doi:10.1186/1471-2431-14-272. ISSN 1471-2431. PMID 25361846.
- Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M. Eric (2008) (in en). Diagnostic Criteria in Autoimmune Diseases. Springer Science & Business Media. ISBN 9781603272858. https://books.google.com/books?id=A_vtzMxtd9AC&q=autoimmune+polyendocrine+syndromes&pg=PA265.
Original source: https://en.wikipedia.org/wiki/Autoimmune polyendocrine syndrome. Read more