Tom 9, Nr 3 (2016)
Artykuł przeglądowy
Opublikowany online: 2016-11-22
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Podejście diagnostyczne do choroby von Willebranda typu 2B
Journal of Transfusion Medicine 2016;9(3):87-100.
Streszczenie
Typ 2B choroby von Willebranda (VWD) jest to wrodzona skaza krwotoczna. Charakteryzuje
się zwiększonym powinowactwem czynnika von Willebranda (VWF) do płytkowego receptora
GPIb-IX-V, spowodowanym mutacjami w eksonie 28 genu VWF, kodującym domenę A1 cząsteczki
VWF. Fenotypowo i klinicznie VWD 2B przypomina inną skazę krwotoczną — chorobę
von Willebranda typu płytkowego (PT-VWD). Wykonując diagnostykę w kierunku VWD 2B,
należy zawsze różnicować VWD 2B z typem PT-VWD. Należy także pamiętać, że VWD 2B
powinna być zawsze brana pod uwagę u chorych z małopłytkowością.
Słowa kluczowe: choroba von Willebranda 2Bpatofizjologiapodłoże genetycznediagnostyka kliniczna i laboratoryjna
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