Changing insights in the diagnosis and classification of
autosomal recessive and dominant von Willebrand diseases
1980-2015

J 2016

Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015

MICHIELS, Jan Jacques, Angelika BATOROVA, Tatiana PRIGANCOVA, Petr SMEJKAL, Miroslav PENKA et. al.

Základní údaje

Originální název

Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015

Autoři

MICHIELS, Jan Jacques (528 Nizozemské království), Angelika BATOROVA (703 Slovensko), Tatiana PRIGANCOVA (703 Slovensko), Petr SMEJKAL (203 Česká republika, garant, domácí), Miroslav PENKA (203 Česká republika, domácí), Inge VANGENECHTEN (56 Belgie) a Alain GADISSEUR (56 Belgie)

Vydání

World Journal of Hematology, Pleasanton, Baishideng Publishing Group Inc. 2016, 2218-6204

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Kód RIV

RIV/00216224:14110/16:00092329

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.5315/wjh.v5.i3.61

Klíčová slova anglicky

von Willebrand disease; von Willebrand factor; ADAMTS13; DDAVP; von Willebrand factor assays; von Willebrand factor multimers; von Willebrand factor mutations

Štítky

EL OK

Změněno: 14. 12. 2016 14:53, Soňa Böhmová

Anotace

V originále

The European Clinical Laboratory and Molecular (ECLM) criteria define 10 distinct Willebrand diseases (VWD): recessive type 3, severe 1, 2C and 2N; dominant VWD type 1 secretion/clearance defect, 2A, 2B, 2E, 2M and 2D; and mild type 1 VWD (usually carriers of recessive VWD). Recessive severe 1 and 2C VWD are characterized by secretion and multimerization defects caused by mutations in the D1-D2 domain. Recessive 2N VWD is a mild hemophilia due to D´-FVlH-von Willebrand factor (VWF) binding site mutations. Dominant 2E VWD caused by heterozygous missense mutations in the D3 domain is featured by a secretion-clearance-multimerization VWF defect. Dominant VWD type 2M due to loss of function mutations in the Al domain is characterized by decreased ristocetin-induced platelet aggregation and VWF:RCo, normal VWF multimers and VWF:CB, a poor response of VWF:RCo and good response of VWF:CB to desmopressin (DDAVP).

Citovat

MICHIELS, Jan Jacques, Angelika BATOROVA, Tatiana PRIGANCOVA, Petr SMEJKAL, Miroslav PENKA, Inge VANGENECHTEN a Alain GADISSEUR. Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015. World Journal of Hematology. Pleasanton: Baishideng Publishing Group Inc., 2016, roč. 5, č. 3, s. 61-74. ISSN 2218-6204. Dostupné z: https://dx.doi.org/10.5315/wjh.v5.i3.61.

@article{1364933,
   author = {Michiels, Jan Jacques and Batorova, Angelika and Prigancova, Tatiana and Smejkal, Petr and Penka, Miroslav and Vangenechten, Inge and Gadisseur, Alain},
   article_location = {Pleasanton},
   article_number = {3},
   doi = {http://dx.doi.org/10.5315/wjh.v5.i3.61},
   keywords = {von Willebrand disease; von Willebrand factor; ADAMTS13; DDAVP; von Willebrand factor assays; von Willebrand factor multimers; von Willebrand factor mutations},
   language = {eng},
   issn = {2218-6204},
   journal = {World Journal of Hematology},
   title = {Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015},
   volume = {5},
   year = {2016}
}

TY  - JOUR
ID  - 1364933
AU  - Michiels, Jan Jacques - Batorova, Angelika - Prigancova, Tatiana - Smejkal, Petr - Penka, Miroslav - Vangenechten, Inge - Gadisseur, Alain
PY  - 2016
TI  - Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015
JF  - World Journal of Hematology
VL  - 5
IS  - 3
SP  - 61-74
EP  - 61-74
PB  - Baishideng Publishing Group Inc.
SN  - 22186204
KW  - von Willebrand disease
KW  - von Willebrand factor
KW  - ADAMTS13
KW  - DDAVP
KW  - von Willebrand factor assays
KW  - von Willebrand factor multimers
KW  - von Willebrand factor mutations
N2  - The European Clinical Laboratory and Molecular (ECLM) criteria define 10 distinct Willebrand diseases (VWD): recessive type 3, severe 1, 2C and 2N; dominant VWD type 1 secretion/clearance defect, 2A, 2B, 2E, 2M and 2D; and mild type 1 VWD (usually carriers of recessive VWD). Recessive severe 1 and 2C VWD are characterized by secretion and multimerization defects caused by mutations in the D1-D2 domain. Recessive 2N VWD is a mild hemophilia due to D´-FVlH-von Willebrand factor (VWF) binding site mutations. Dominant 2E VWD caused by heterozygous missense mutations in the D3 domain is featured by a secretion-clearance-multimerization VWF defect. Dominant VWD type 2M due to loss of function mutations in the Al domain is characterized by decreased ristocetin-induced platelet aggregation and VWF:RCo, normal VWF multimers and VWF:CB, a poor response of VWF:RCo and good response of VWF:CB to desmopressin (DDAVP).
ER  -

MICHIELS, Jan Jacques, Angelika BATOROVA, Tatiana PRIGANCOVA, Petr SMEJKAL, Miroslav PENKA, Inge VANGENECHTEN a Alain GADISSEUR. Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015. \textit{World Journal of Hematology}. Pleasanton: Baishideng Publishing Group Inc., 2016, roč.~5, č.~3, s.~61-74. ISSN~2218-6204. Dostupné z: https://dx.doi.org/10.5315/wjh.v5.i3.61.

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