Mazurier C, Goudemand J, Hilbert L, Caron C, Fressinaud E, Meyer D
Analytical Department, Laboratoire français du Fractionnement et des Biotechnologies, Lille, France.
Best Pract Res Clin Haematol. 2001 Jun;14(2):337-47. doi: 10.1053/beha.2001.0138.
Type 2N von Willebrand disease encompasses all patients with factor VIII deficiency caused by a markedly decreased affinity of von Willebrand factor for factor VIII. It is recessively inherited and clinically similar to mild haemophilia. The differential biological diagnosis is of major importance for providing the optimal treatment and relevant genetic counselling. This accurate diagnosis is based on an evaluation of the factor VIII-binding capacity of plasma von Willebrand factor. Furthermore, molecular biology techniques allow the identification of missense mutations in the von Willebrand factor gene. All of these induce the substitution of amino acid residues located in the N terminal part of the mature von Willebrand factor molecule, which contains the factor VIII binding site. Most of them induce a classical type 2N von Willebrand disease phenotype with factor VIII deficiency but a normal level and multimeric pattern of von Willebrand factor.
2N型血管性血友病包括所有因血管性血友病因子与凝血因子VIII亲和力显著降低而导致凝血因子VIII缺乏的患者。它是隐性遗传的，临床症状与轻度血友病相似。鉴别生物学诊断对于提供最佳治疗和相关遗传咨询至关重要。这种准确的诊断基于对血浆血管性血友病因子的凝血因子VIII结合能力的评估。此外，分子生物学技术可用于鉴定血管性血友病因子基因中的错义突变。所有这些突变都会导致成熟血管性血友病因子分子N末端部分的氨基酸残基被取代，该部分包含凝血因子VIII结合位点。其中大多数会导致典型的2N型血管性血友病表型，即凝血因子VIII缺乏，但血管性血友病因子水平和多聚体模式正常。
