| 词条 | TNF receptor associated periodic syndrome |
| 释义 |
| name = TNF receptor associated periodic syndrome | synonyms = Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome | image = Autosomal dominant - en.svg | alt = TNF receptor associated periodic syndrome is acquired via autosomal dominant inheritance | | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in the TNFRSF1A gene[1] | risks = | diagnosis = Blood test, Genetic test[2][3] | differential = | prevention = | treatment = Corticosteroids, NSAIDS [4] | medication = | prognosis = | frequency = | deaths = }}TNF receptor associated periodic syndrome (TRAPS[2]) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, joint/muscle aches and puffy eyes.[2][3] Symptoms and signsTNF receptor associated periodic syndrome presents with the following signs and symptoms:[4]
CauseTNF receptor associated periodic syndrome is autosomal dominant, and about 70 mutations of the TNFRSF1A gene have been linked to this condition.[5] Its cytogenetic location is at 12p13.31.[6] MechanismThe main source of TNF (tumor necrosis factor) are cells in the immune system called macrophages which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in initiation of inflammation.[7] Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene;[8] the mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still unknown. Impaired shedding of the TNF receptor is one of the possible defects, most mutations affect the extracellular domain of the receptor, some also the cleavage site.{{medical citation needed|date=March 2009}} DiagnosisThe diagnosis of TRAPS may show an increased IgD level in a possibly affected individual, other methods to ascertain a definite finding is via the following:[9][10]
TreatmentIn terms of treatment for TNF receptor associated periodic syndrome, corticosteroids can be administered for the reduction of the severity of this condition, NSAIDS may be used for fever.[4] ResearchSeveral medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept, and infliximab,[11] See also
References1. ^{{cite web|last1=Reference|first1=Genetics Home|title=TRAPS|url=https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome#genes|website=Genetics Home Reference|accessdate=3 January 2018|language=en}} {{Use dmy dates|date=September 2010}}2. ^1 {{Cite journal|url=http://www.springerlink.com/content/34p7675k44532208/ |title=TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder |date= November 2006|accessdate=2010-02-02 |doi=10.1007/s10067-005-0198-6 |pmid=16447098 |volume=25 |issue=6 |journal=Clinical Rheumatology |pages=773–777|last1=Rezaei |first1=Nima }}subscription needed 3. ^{{Cite web|url=https://www.niams.nih.gov/Health_Info/Autoinflammatory/default.asp|title=Autoinflammatory Diseases|last=Liaison|first=Janet Austin, Office of Communications and Public|website=www.niams.nih.gov|language=en|access-date=2017-06-22|date=2017-04-21}} 4. ^1 2 {{Cite web|url=https://rarediseases.info.nih.gov/diseases/8457/tumor-necrosis-factor-receptor-associated-periodic-syndrome|title=Tumor necrosis factor receptor-associated periodic syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|language=en|access-date=2017-06-22}} 5. ^{{Cite web|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=32960|title=Orphanet: Tumor necrosis factor receptor 1 associated periodic syndrome|last=RESERVED|first=INSERM US14 -- ALL RIGHTS|website=www.orpha.net|language=en|access-date=2017-06-22}} 6. ^{{cite web|title=OMIM Gene Map - Chromosome: 12|url=https://omim.org/geneMap/12/46?start=-3&limit=10&highlight=46|website=omim.org|accessdate=22 June 2017|language=en-us}} 7. ^{{Cite journal|last=Wajant|first=H.|last2=Pfizenmaier|first2=K.|last3=Scheurich|first3=P.|date=2003|title=Tumor necrosis factor signaling|url=http://www.nature.com/cdd/journal/v10/n1/full/4401189a.html|journal=Cell Death & Differentiation|language=en|volume=10|issue=1|pages=45–65|doi=10.1038/sj.cdd.4401189|pmid=12655295|issn=1350-9047}} 8. ^{{Cite web|url=https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=7132|title=TNFRSF1A TNF receptor superfamily member 1A [Homo sapiens (human)] - Gene - NCBI|website=www.ncbi.nlm.nih.gov|access-date=2017-06-22}} 9. ^1 {{Cite web|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C1275126/|title=TNF receptor-associated periodic fever syndrome (TRAPS) - Conditions - GTR - NCBI|website=www.ncbi.nlm.nih.gov|language=en|access-date=2017-06-22}} 10. ^1 {{Cite book|url=https://books.google.com/?id=kBZ6DAAAQBAJ&pg=PA1684-IA3&dq=TNF+receptor+associated+periodic+syndrome+diagnosis#v=onepage&q=TNF%20receptor%20associated%20periodic%20syndrome%20diagnosis&f=false|title=Kelley and Firestein's Textbook of Rheumatology E-Book|last=Firestein|first=Gary S.|last2=Budd|first2=Ralph|last3=Gabriel|first3=Sherine E.|last4=McInnes|first4=Iain B.|last5=O'Dell|first5=James R.|date=2016-06-21|publisher=Elsevier Health Sciences|page=1676|isbn=9780323414944|language=en}} 11. ^{{cite journal |vauthors=Church LD, Churchman SM, Hawkins PN, McDermott MF | date = Jun 2006 | title = Hereditary auto-inflammatory disorders and biologics | url = | journal = Springer Semin Immunopathol | volume = 27 | issue = 4| pages = 494–508 | doi = 10.1007/s00281-006-0015-6 | pmid = 16738958 }}subscription needed Further reading
External links{{Medical resources| ICD10 = E85.0 | ICD9 = | ICDO = | OMIM = 142680 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = C536657 | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 32960 }}
3 : Rheumatology|Autoinflammatory syndromes|Rare diseases |
| 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。