VANGENECHTEN, Inge, Petr SMEJKAL, Ondřej ZAPLETAL, Jan Jacques MICHIELS, Zwi BERNEMAN, Jiřina ZAVŘELOVÁ, Jan BLATNÝ, Miroslav PENKA a Alain GADISSEUR. Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study. THROMBOSIS AND HAEMOSTASIS. STUTTGART: GEORG THIEME VERLAG KG, 2019, roč. 119, č. 4, s. 594-605. ISSN 0340-6245. Dostupné z: https://dx.doi.org/10.1055/s-0039-1678528.
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Základní údaje
Originální název Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study
Autoři VANGENECHTEN, Inge (372 Irsko, garant), Petr SMEJKAL (203 Česká republika, domácí), Ondřej ZAPLETAL (203 Česká republika), Jan Jacques MICHIELS (528 Nizozemské království), Zwi BERNEMAN (56 Belgie), Jiřina ZAVŘELOVÁ (203 Česká republika, domácí), Jan BLATNÝ (203 Česká republika), Miroslav PENKA (203 Česká republika, domácí) a Alain GADISSEUR (56 Belgie).
Vydání THROMBOSIS AND HAEMOSTASIS, STUTTGART, GEORG THIEME VERLAG KG, 2019, 0340-6245.
Další údaje
Originální jazyk angličtina
Typ výsledku Článek v odborném periodiku
Obor 30205 Hematology
Stát vydavatele Německo
Utajení není předmětem státního či obchodního tajemství
WWW URL
Impakt faktor Impact factor: 4.385
Kód RIV RIV/00216224:14110/19:00109814
Organizační jednotka Lékařská fakulta
Doi http://dx.doi.org/10.1055/s-0039-1678528
UT WoS 000463041700011
Klíčová slova anglicky classification; mutations; von Willebrand disease; von Willebrand factor; von Willebrand factor assays
Štítky 110616, 14110616, rivok
Příznaky Mezinárodní význam, Recenzováno
Změnil Změnila: Soňa Böhmová, učo 232884. Změněno: 3. 6. 2019 08:29.
Anotace
Background von Willebrand disease (VWD) is an inherited bleeding disorder caused by a quantitative (type 1 and 3) or qualitative (type 2) defect of von Willebrand factor (VWF). The heterogeneity of laboratory phenotyping makes diagnosing difficult. Objective A cross-sectional, family-based VWD study in a collaboration between University Hospital Brno (Czech Republic) and Antwerp University Hospital (Belgium) to improve the understanding of laboratory phenotype/genotype correlation. Patients and Methods A total of 205 patients with suspected VWD were identified from historical records. Complete laboratory analysis was established using all available VWD assays including VWF multimers and genetic analysis. Results Based on the current International Society of Thrombosis and Haemostasis (ISTH) - Scientific and Standardization Committee VWD classification and type 2A sub-division into 2A/IIA, IID, IIC and HE, the majority was characterized as a type 1 VWD, followed by type 2. Proposed laboratory phenotypes were confirmed by their multimeric pattern within 98% of this cohort. All type 2, 3 and 75% of type 1 VWD patients were confirmed by underlying causative mutations. Forty-six different causal mutations (117 not previously described in the literature) could be identified. Fifty per cent of all cases was represented by eight individual mutations, mainly p.Pro812ArgfsX31. Thirteen patients had a large heterozygous gene alteration. Conclusion Although an extensive panel of tests was used, VWD classification and (sub)typing remains difficult and fluid. This study provides a cross-sectional overview of the VWD population in the Czech Republic and provides important data to the ISTH/ European Association for Haemophilia and Allied Disorders VWD mutation database in linking causal mutations with unique VWD (sub)types. It also identifies new, as not previously described in the literature, causal mutations.
VytisknoutZobrazeno: 26. 7. 2024 01:26