| 词条 | Arterial tortuosity syndrome |
| 释义 |
| name = Arterial tortuosity syndrome (ATS) | synonyms = | image = Image:autorecessive.svg | caption = Arterial tortuosity syndrome has an autosomal recessive pattern of inheritance | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in SLC2A10 gene[1][2] | risks = | diagnosis = CT scan, MRI [3] | differential = | prevention = | treatment = Possible surgery for aortic aneurysms[4] | medication = | prognosis = | frequency = | deaths = }} Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta.[1][2] It is associated with hyperextensible skin and hypermobility of joints, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease.{{medical citation needed|date=March 2017}} Signs and symptomsAmong the signs and symptoms demonstrated, by this condition are the following:[1][3]
GeneticsArterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13.[2][1] The gene associated with arterial tortuosity syndrome is SLC2A10 and has no less than 23 mutations in those individuals found to have the aforementioned condition.[4][5] {{clear}}PathophysiologyThe mechanism of this condition is apparently controlled(or due to) the SLC2A10 gene.[6] The molecular genetic pathogenesis finds that SLC2A10 encodes GLUT10(in nuclear membrane, or the endoplasmic reticulum, the later of which GLUT10 transports DHA into).Clinically speaking, according to one review, the condition of tortuosity is seen more with the advance of age.[6][7] DiagnosisIn terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing,[8] as well as the following listed below:[6]
TreatmentThe treatment of arterial tortuosity syndrome entails possible surgery for aortic aneurysms, as well as, follow ups which should consist of EGC. The prognosis of this condition has it at about 12% mortality[3][9] References1. ^1 {{Cite web|url=https://rarediseases.info.nih.gov/diseases/774/arterial-tortuosity-syndrome|title=Arterial tortuosity syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|language=en|access-date=2017-03-21}} 2. ^1 {{Cite web|url=https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome|title=arterial tortuosity syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-03-21}} 3. ^1 2 {{Cite web|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342|title=Orphanet: Arterial tortuosity syndrome|last=RESERVED|first=INSERM US14 -- ALL RIGHTS|website=www.orpha.net|language=en|access-date=2017-03-22}} 4. ^1 2 {{cite web|last1=Reference|first1=Genetics Home|title=SLC2A10 gene|url=https://ghr.nlm.nih.gov/gene/SLC2A10#conditions|website=Genetics Home Reference|accessdate=22 March 2017|language=en}} 5. ^1 {{Cite web|url=https://omim.org/entry/208050|title=OMIM Entry - # 208050 - ARTERIAL TORTUOSITY SYNDROME; ATS|website=omim.org|language=en-us|access-date=2017-03-22}} 6. ^1 2 3 {{Cite book|chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK253404/|title=GeneReviews(®)|last=Callewaert|first=Bert|last2=De Paepe|first2=Anne|last3=Coucke|first3=Paul|date=1993-01-01|publisher=University of Washington, Seattle|editor-last=Pagon|editor-first=Roberta A.|location=Seattle (WA)|pmid=25392904|editor-last2=Adam|editor-first2=Margaret P.|editor-last3=Ardinger|editor-first3=Holly H.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Amemiya|editor-first5=Anne|editor-last6=Bean|editor-first6=Lora JH|editor-last7=Bird|editor-first7=Thomas D.|editor-last8=Ledbetter|editor-first8=Nikki|editor-last9=Mefford|editor-first9=Heather C.|chapter=Arterial Tortuosity Syndrome}}update 2014 7. ^{{Cite journal|last=Morris|first=Shaine A.|date=2017-03-23|title=Arterial Tortuosity in Genetic Arteriopathies|journal=Current Opinion in Cardiology|volume=30|issue=6|pages=587–593|doi=10.1097/HCO.0000000000000218|issn=0268-4705|pmid=26398550|pmc=4624847}} 8. ^{{cite web|title=Arterial tortuosity syndrome - Conditions - GTR - NCBI|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C1859726/|website=www.ncbi.nlm.nih.gov|accessdate=23 March 2017|language=en}} 9. ^{{cite book|last1=Saudubray|first1=Jean-Marie|last2=Baumgartner|first2=Matthias R.|last3=Walter|first3=John|title=Inborn Metabolic Diseases: Diagnosis and Treatment|date=2016|publisher=Springer|isbn=9783662497715|page=181|url=https://books.google.com/?id=m9N5DQAAQBAJ&pg=PA181&dq=arterial+tortuosity+syndrome+treatment#v=onepage&q=arterial%20tortuosity%20syndrome%20treatment&f=false|language=en}} Further reading
External links{{Medical resources| DiseasesDB = 35153 | ICD10 = {{ICD10|Q23.0}}, {{ICD10|Q27.8}}, {{ICD10|Q28.3}} | ICD9 = | ICDO = | OMIM = 208050 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = 3342 }}{{Membrane transport protein disorders}}{{Medicine}} 7 : Autosomal recessive disorders|Syndromes affecting the eyes|Membrane transport protein disorders|Rare syndromes|Syndromes affecting the cornea|Syndromes affecting the aorta|Genetic syndromes |
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