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Tom 10, Nr 4 (2017)
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Opublikowany online: 2018-01-17

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Eksport do Mediów Społecznościowych

Eksport do Mediów Społecznościowych

Choroba von Willebranda typu płytkowego (PT-VWD) — epidemiologia, podłoże molekularne, diagnostyka

Ksenia Bykowska1, Bernardeta Ceglarek2
Journal of Transfusion Medicine 2017;10(4):138-148.

Streszczenie

Choroba von Willebranda typu płytkowego (PT-VWD) dziedziczy się autosomalnie dominująco. Jest ona spowodowana mutacjami genu glikoproteiny GP Iba, receptora dla czynnika von Willebranda na płytkach krwi. Paradoksalnie mutacje genu GPIba w PT-VWD zwiększają, a nie zmniejszają powinowactwo GPIba do czynnika von Willebranda (VWF). Podczas gdy choroba von Willebranda (VWD) jest najczęściej występującą skazą krwotoczną i dotyczy około 1% ogólnej populacji, to płytkowa choroba von Willebranda (PT-VWD, pseudo VWD) występuje sporadycznie. Opisano dotąd 55 osób z tym defektem. U chorych z PT-VWD skaza krwotoczna jest zróżnicowana od łagodnej do umiarkowanej, niezależnie od płci i wieku pacjenta. Zagrażające życiu krwawienia mogą się pojawić w przebiegu infekcji, ciąży, po zabiegach chirurgicznych. Fenotypowo PT-VWD przypomina chorobę VWD typu 2B, ale etiologia tych dwóch chorób jest różna. W każdym przypadku rozpoznania VWD 2B konieczne jest wykonanie dodatkowych badań różnicujących VWD 2B i PT-VWD, aby potwierdzić rozpoznanie i wybrać właściwy sposób leczenia.

Słowa kluczowe: płytkowa choroba von Willebrandaczynnik von Willebrandaglikoproteina Ibαobraz fenotypowyocena laboratoryjna

Pełna treść:

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