| 词条 | Autoimmune polyendocrine syndrome |
| 释义 |
| name = Autoimmune polyendocrine syndrome | image = PBB Protein AIRE image.jpg | caption = Protein AIRE (from AIRE gene which causes Autoimmune polyendocrine syndrome type 1) | pronounce = | field = | synonyms = | symptoms = | complications = | #nset = | duration = | types = APS type1, APS type 2, IPEX syndrome | causes = | risks = | diagnosis = Endoscopic, CT scan[1] | differential = | prevention = | treatment = Depends on type | medication = | prognosis = | frequency = | deaths = }}Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes (APSs), polyglandular autoimmune syndromes (PGASs),[1] or polyendocrine autoimmune syndromes(PASs), 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.[1][3][4] Types
CauseEach "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.[10][11] DiagnosisDiagnosis for type 1 of this condition for example, sees that the following methods/tests are available:[5]
Differential diagnosisFor this condition, differential diagnosis sees that the following should be considered:[12]
ManagementImmunosuppressive therapy may be used in type I of this condition,[13] ketoconazole can be used for autoimmune polyendocrine syndrome type I under certain conditions[5] 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|date=May 2017}} See also
References1. ^{{cite journal |url=http://jcem.endojournals.org/content/88/7/2983.full |title=Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up |journal=The Journal of Clinical Endocrinology & Metabolism |volume=88 |issue=7 |pages=2983–2992 |deadurl=no |accessdate=1 July 2013|doi=10.1210/jc.2002-021845 |pmid=12843130 |year=2003 |last1=Dittmar |first1=Manuela |last2=Kahaly |first2=George J. }} 2. ^{{cite journal |vauthors=Eisenbarth GS, Gottlieb PA |title=Autoimmune polyendocrine syndromes |journal=N. Engl. J. Med. |volume=350 |issue=20 |pages=2068–79 |year=2004 |pmid=15141045 |doi=10.1056/NEJMra030158 |url=}} 3. ^{{Cite journal|date=2017-05-03|title=Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology|url=http://emedicine.medscape.com/article/124398-overview}} 4. ^{{Cite journal|date=2017-05-03|title=Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology|url=http://emedicine.medscape.com/article/124287-overview}} 5. ^1 2 3 4 5 {{Cite journal|date=2017-01-06|title=Type I Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology|url=http://emedicine.medscape.com/article/124183-overview}} 6. ^{{Cite web|url=https://rarediseases.info.nih.gov/diseases/7611/index|title=Autoimmune polyglandular syndrome type 2 {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|language=en|access-date=2017-04-20}} 7. ^{{Cite web|url=https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome#inheritance |title=IPEX syndrome |website=Genetics Home Reference |language=en |access-date=2017-04-20}} 8. ^{{Cite web |url=https://rarediseases.info.nih.gov/diseases/1850/index |title=Immunodysregulation, polyendocrinopathy and enteropathy X-linked {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |website=rarediseases.info.nih.gov |language=en |access-date=2017-04-20}} 9. ^{{cite journal |last1=Wildin |first1=R. S.|last2=Smyk-Pearson |first2=S. |last3=Filipovich |first3=A. H. |title=Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome|journal=Journal of Medical Genetics |date=1 August 2002 |volume=39 |issue=8 |pages=537–545 |doi=10.1136/jmg.39.8.537 |url=http://jmg.bmj.com/content/39/8/537 |accessdate=1 January 2018 |language=en |issn=0022-2593 |pmid=12161590 |pmc=1735203}} 10. ^{{Cite web|url=https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome#inheritance |title=IPEX syndrome |last=Reference |first=Genetics Home |website=Genetics Home Reference |language=en |access-date=2017-05-11}} 11. ^{{Cite web |url=https://ghr.nlm.nih.gov/gene/FOXP3#conditions |title=FOXP3 gene |last=Reference |first=Genetics Home |website=Genetics Home Reference |language=en |access-date=2017-05-11}} 12. ^{{Cite web|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042|title=Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome|last=RESERVED|first=INSERM US14 -- ALL RIGHTS|website=www.orpha.net|language=en|access-date=2017-05-11}} 13. ^{{Cite journal|last=Weiler|first=Fernanda Guimarães|last2=Dias-da-Silva|first2=Magnus R.|last3=Lazaretti-Castro|first3=Marise|date=2012-02-01|title=Autoimmune polyendocrine syndrome type 1: case report and review of literature|url=http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0004-27302012000100009&lng=en&nrm=iso&tlng=en|journal=Arquivos Brasileiros de Endocrinologia & Metabologia|volume=56|issue=1|pages=54–66|doi=10.1590/S0004-27302012000100009|issn=0004-2730}} Further reading
External links{{Medical resources| DiseasesDB = 29212 | ICD10 = {{ICD10|E|31|0|e|20}} | ICD9 = {{ICD9|258.1}} | ICDO = | OMIM = 240300 | OMIM_mult = {{OMIM2|269200}} | MedlinePlus = | eMedicineSubj = med | eMedicineTopic = 1867 | eMedicine_mult = {{eMedicine2|med|1868}} | MeshID = D016884 }}
4 : Endocrine diseases|Autoimmune diseases|Rare syndromes|Diseases of immune dysregulation |
| 随便看 |
|
开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。