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master's thesis
Urođena trombofilija
2017. urn:nbn:hr:184:508684
Baumgartner, Petra
University of Rijeka
Faculty of Medicine
Department of Internal Medicine

Cite this document

Baumgartner, P. (2017). Urođena trombofilija (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:508684

Baumgartner, Petra. "Urođena trombofilija." Master's thesis, University of Rijeka, Faculty of Medicine, 2017. https://urn.nsk.hr/urn:nbn:hr:184:508684

Baumgartner, Petra. "Urođena trombofilija." Master's thesis, University of Rijeka, Faculty of Medicine, 2017. https://urn.nsk.hr/urn:nbn:hr:184:508684

Baumgartner, P. (2017). 'Urođena trombofilija', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 15 November 2024, https://urn.nsk.hr/urn:nbn:hr:184:508684

Baumgartner P. Urođena trombofilija [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2017 [cited 2024 November 15] Available at: https://urn.nsk.hr/urn:nbn:hr:184:508684

P. Baumgartner, "Urođena trombofilija", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2017. Available at: https://urn.nsk.hr/urn:nbn:hr:184:508684

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Metadata
TitleUrođena trombofilija
Title (english)Hereditary thrombophilia
AuthorPetra Baumgartner
MentorToni Valković (mentor)
Committee memberSrđan Novak (predsjednik povjerenstva)
Committee memberSandra Milić (član povjerenstva)
Committee memberLarisa Prpić Massari (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
(Department of Internal Medicine)
Rijeka
Defense date and country2017-07-14, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Abstract
Pojam trombofilija podrazumijeva nasljedne i/ili stečene poremećaje mehanizma hemostaze koji predisponiraju razvoj tromboze. Nasljedne/naslijeđene trombofilije obuhvaća stanja u kojima genetska mutacija utječe na količinu ili funkciju proteina u sustavu koagulacije, a kao njihova posljedica nastaje povećana sklonost venskim i rjeđe arterijskim trombozama. Mutacije mogu dovesti do gubitka ili pretjerane funkcije proteina. Mutacije koje dovode do gubitka funkcije uključuju one koje zahvaćaju genetske materijale antitrombina, proteina C i proteina S. Suprotno njima, češće su mutacije genetskog materijala faktora V Leiden i protrombinskih gena 20210 G>A koje dovode do pretjerane aktivnosti navedenih proteina. Urođene trombofilije dovode do povećanog rizika za VTE, a neke i do povećanog rizika za arterijske tromboze i do trombotskih komplikacija u trudnoći. Najteže komplikacije su: purpura fulminans, kumarinima uzrokovana nekroza kože, postrombotski sindrom te smrt. Smjernice za testiranje na urođene trombofilije razlikuju se kod različitih autora te se zbog postojanja brojnih psiholoških, socijalnih i etičkih dilema ove pretrage preporučaju samo u racionalnim situacijama. Trenutni tretman za trombofilije uključuje profilaksu s heparinom male molekularne težine i liječenje koje uključuje heparin, varfarin ili koncerntrate pročišćenih faktora
Abstract (english)
The term thrombophilia implies inherited and /or acquired disorders of hemostatic mechanisms that predispose the development of thrombosis. Hereditary / inherited thrombophilia includes conditions in which the genetic mutation affects the amount or the function of proteins in the coagulation system, and as their consequence occurs an increased tendency to venous and arterial thrombosis. Mutations can lead to loss or gain of protein function. Mutations that lead to loss of function include antithrombin, protein C and protein S genes. More frequent is factor V Leiden mutation and the prothrombin genes 20210 G> A mutation, that results in excessive activity of this proteins. Inborn thrombophilia leads to increased risk for VTE, sometimes to increased risk for arterial thrombosis and for thrombotic complications during pregnancy. The worst complications are: purpura fulminans, coumarin caused skin necrosis, postrombotic syndrome and death. Guidelines for testing on inherited thrombophilia differ in various authors, and because of the numerous psychological, social and ethical dilemmas it is only recommendent in rational situations. Current treatment for thrombophilia includes low molecular weight heparin prophylaxis and treatment of VTE with heparin, warfarin or purified factor concentrate
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:508684
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-11-22 08:13:21