Von Willebrand disease: uncertainties of classification and standards

Autor: L.Ya. Dubey, I.P. Tsymbaluk-Voloshyn, N. V. Dubey, O.I. Stepanuk, O.I. Vorobel, A.I. Markin, O.I. Dorosh, O.I. Kozlova, J.L. Dubey, M.V. Sapuzhak, O.O. Troyanovska, N.I. Shorobura
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Sovremennaâ Pediatriâ, Iss 2(82), Pp 122-129 (2017)
ISSN: 2412-4508
1992-5913
Popis: Von Willebrand disease (VWD) is a genetic disorder of blood clotting, which is transmitted autosomal genetic factors and is associated with both quantitative and qualitative defects of VW factor (VWF). There are many different types of VWD, classified, however, solely according to the phenotypic characteristics of the protein. VWD is a heterogeneous disease with different clinical and laboratory manifestations that are the basis of pathogenetic mechanisms of its development. The conducted genetic analysis made it possible to identify additional heterogeneity among different types of disease with similar phenotypic characteristics. Despite the fact that the VWD classification is constantly amended and augmented, the ambiguity of its classification criteria still remains unsolved and requires continuing research efforts.
Databáze: OpenAIRE