Tom 12, Nr 4 (2019)
Praca badawcza (oryginalna)
Opublikowany online: 2020-01-10
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432
Wyświetlenia/pobrania artykułu
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Propeptyd czynnika von Willebranda (VWFpp) — potencjalny biomarker we wrodzonej i nabytej chorobie von Willebranda
Journal of Transfusion Medicine 2019;12(4):160-175.
Streszczenie
Propeptyd czynnika von Willebranda (VWFpp) jest to fragment nowo syntetyzowanej cząsteczki VWF odgrywający ważną rolę w biosyntezie tego białka. Po zakończonej multimeryzacji dimerów czynnika von Willebranda (VWF) w aparacie Golgiego, na skutek proteolizy przez furynę, zostaje on odłączony od macierzystej cząsteczki VWF i tworzy z nią niekowalencyjny kompleks. Kompleks VWFpp–VWF jest magazynowany w ziarnistościach komórek śródbłonka i płytkach krwi i uwalniany do krwioobiegu, gdzie dysocjuje na VWFpp i VWF. Stężenie VWFpp w osoczu i iloraz VWFpp/VWF:Ag są ważnymi biomarkerami syntezy/uwalniania/klirensu VWF i mają istotne znaczenie zarówno terapeutyczne — umożliwiają identyfikowanie pacjentów z chorobą von Willebranda (VWD), u których leczenie DDAVP jest nieskuteczne z powodu szybkiego klirensu VWF, jak i diagnostyczne — pomagają różnicować warianty we wrodzonej VWD oraz różnicować wrodzoną VWD z nabytą (AVWS). Celem prezentowanej pracy było oznaczenie stężenia VWFpp i ilorazu VWFpp/VWD:Ag u pacjentów z VWD i AVWS oraz ocena znaczenia tych biomarkerów w rozpoznawaniu i leczeniu VWD i AVWS. Badania wykonano u 120 chorych z VWD oraz u 21 z AVWS i u 111 osób grupy kontrolnej. Wyniki badań autorów potwierdzają, że stężenie VWFpp i wartość ilorazu VWFpp/VWF:Ag mają istotne znaczenie w różnicowaniu ciężkiego typu 1 VWD z typem 3 VWD, w różnicowaniu nabytej i wrodzonej VWD, a także pozwalają na wyłonienie chorych, u których leczenie DDAVP może być nieskuteczne. W typie 1 VWD ( < 30%) iloraz VWFpp/VWF:Ag był podwyższony u 57% chorych, natomiast w grupie chorych z granicznymi wartościami VWF (low VWF — 30–50%) był prawidłowy, co może sugerować inne podłoże niedoboru VWF. W badaniach wykonanych u pacjentów z nieneutralizującymi przeciwciałami anty-VWF (AVWS) wykazano, że iloraz VWFpp/VWF:Ag może mieć istotne znaczenie w monitorowaniu leczenia i ocenie remisji u pacjentów z przeciwciałami anty-VWF.
Słowa kluczowe: propeptyd czynnika von Willebrandabiomarkerchoroba von Willebrandanabyta choroba von Willebranda
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