| 词条 | Protein S deficiency |
| 释义 |
| name = Protein S deficiency | image = File:Protein PROS1 PDB 1z6c.png | caption = Protein S structure | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = Vitamin K deficiency[1] | risks = | diagnosis = Coagulation test[1] | differential = | prevention = | treatment = Heparin, Warfarin[3] | medication = | prognosis = | frequency = | deaths = }} Protein S deficiency is a disorder associated with increased risk of venous thrombosis.[1] Protein S, a vitamin K-dependent physiological anticoagulant, acts as a nonenzymatic cofactor to activate protein C in the degradation of factor Va and factor VIIIa.[2] Decreased (antigen) levels or impaired function of protein S leads to decreased degradation of factor Va and factor VIIIa and an increased propensity to venous thrombosis. Protein S circulates in human plasma in two forms: approximately 60 percent is bound to complement component C4b β-chain while the remaining 40 percent is free, only free protein S has activated protein C cofactor activity{{medical citation needed|date=October 2016}} Signs/symptomsAmong the possible presentation of protein S deficiency are:[1][3][3] {{columns-list|colwidth=30em|
}} CauseIn terms of the cause of protein S deficiency it can be in inherited via autosomal dominance.A mutation in the PROS1 gene triggers the condition. The cytogenetic location of the gene in question is chromosome 3, specifically 3q11.1[4][5] Protein S deficiency can also be acquired due to vitamin K deficiency, treatment with warfarin, liver disease, and acute thrombosis (antiphospholipid antibodies may also be a cause as well)[1] PathophysiologyIn regards to the mechanism of protein S deficiency, Protein S is made in liver cells and the Endothelium[6][7]. Protein S is a cofactor of APC both work to degrade factor V and factor VIII. It has been suggested that Zn2+ might be necessary for Protein S binding to factor Xa.[3][15] Mutations in this condition change amino acids, which in turn disrupts blood clotting. Functional protein S is lacking, which normally turns off clotting proteins, this increases risk of blood clots.[4] DiagnosisThe diagnosis for deficiency of protein S can be done via reviewing family history of condition and genetic testing, as well as the following:[1][8][9]
Differential diagnosisAmong the possibilities for differential diagnosis of protein S deficiency are- Antiphospholipid syndrome, disseminated intravascular coagulation and antithrombin deficiency (though this list is not exhaustive)[3] TypesThere are three types of hereditary protein S deficiency:[10][4]
TreatmentIn terms of treatment for protein S deficiency the following are consistent with the management (and administration of) individuals with this condition (the prognosis for inherited homozygotes is usually in line with a higher incidence of thrombosis for the affected individual[1]):[10][11]
References1. ^1 2 3 4 5 6 {{Cite web|url=http://patient.info/doctor/protein-s-deficiency|title=Protein S Deficiency. Learn about Protein S Deficiency {{!}} Patient|website=Patient|language=en-GB|access-date=2016-10-16}} 2. ^{{Cite journal|date=2016-06-01|title=Protein S: Reference Range, Collection and Panels, Interpretation|url=http://emedicine.medscape.com/article/2086014-overview#showall}} 3. ^{{cite web|title=Congenital protein C or S deficiency: MedlinePlus Medical Encyclopedia|url=https://medlineplus.gov/ency/article/000559.htm|website=medlineplus.gov|accessdate=16 October 2016}} 4. ^1 2 {{cite web|last1=Reference|first1=Genetics Home|title=PROS1 gene|url=https://ghr.nlm.nih.gov/gene/PROS1#location|website=Genetics Home Reference|accessdate=16 October 2016}} 5. ^{{cite web|last1=Reference|first1=Genetics Home|title=protein S deficiency|url=https://ghr.nlm.nih.gov/condition/protein-s-deficiency|website=Genetics Home Reference|accessdate=16 October 2016}} 6. ^{{cite web|title=Endothelial Cells, Volume 1, 1988, p158, By Una S.|url=https://books.google.co.uk/books?isbn=0849349907|website=books.google.co.uk|accessdate=24 January 2019}} 7. ^{{cite journal|title=J Clin Invest. 2009 Oct, 119(10):2942-53, Burstyn-Cohen T1, Heeb MJ, Lemke G: Lack of protein S in mice causes embryonic lethal coagulopathy and vascular dysgenesis|journal=The Journal of Clinical Investigation|volume=119|issue=10|pages=2942–53|pmid=19729839|pmc=2752078|year=2009|last1=Burstyn-Cohen|first1=T.|last2=Heeb|first2=M. J.|last3=Lemke|first3=G.|doi=10.1172/JCI39325}} 8. ^{{cite web|title=Protein S blood test: MedlinePlus Medical Encyclopedia|url=https://medlineplus.gov/ency/article/003660.htm|website=medlineplus.gov|accessdate=16 October 2016}} 9. ^{{cite web|title=Protein S deficiency - Conditions - GTR - NCBI|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C2676728/|website=www.ncbi.nlm.nih.gov|accessdate=16 October 2016}} 10. ^1 2 3 4 5 {{Cite journal|date=2016-05-02|title=Protein S Deficiency: Background, Pathophysiology, Epidemiology|url=http://emedicine.medscape.com/article/205582-overview#showall}} 11. ^1 {{cite journal|last1=Ten Kate|first1=M. K.|last2=Van Der Meer|first2=J.|title=Protein S deficiency: a clinical perspective|journal=Haemophilia|date=1 November 2008|volume=14|issue=6|pages=1222–1228|doi=10.1111/j.1365-2516.2008.01775.x|pmid=18479427|language=en|issn=1365-2516}} Further reading
External links{{Medical resources| DiseasesDB = 10814 | ICD10 = {{ICD10|D|68|5|d|68}} | ICD9 = {{ICD9|289.81}} | ICDO = | OMIM = 176880 | MedlinePlus = | eMedicineSubj = med | eMedicineTopic = 1924 | MeshID = D018455 }}{{commons category|Thrombosis}}
1 : Coagulopathies |
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