Bernard-Soulier综合征(Bernard-Soulier Syndrome, BSS)是一种罕见的遗传性血小板功能障碍,导致血液凝固问题。BSS由血小板膜糖蛋白复合物(特别是GPIb-IX-V复合物)缺陷引起,这些蛋白质在血小板粘附和血液凝固过程中起关键作用。BSS分为不同的类型(如A型、B型和C型),每种类型由不同的基因突变引起。 Bernard-Soulier综合...
巨大血小板综合征又称Bernard-Soulier综合征(Bernard-Soulier syndrome,BSS),以轻、中度的血小板减少,血小板体积增大,出血时间延长,凝血酶原...更多>> 1.小儿巨大血小板综合征是由什么原因引起的? 3.小儿巨大血小板综合征的治疗方法有哪些? 5.小儿巨大血小板综合征容易与哪些疾病混淆?
Bernard-Soulier syndrome (BSS) is a rare autosomal bleeding disorder characterized clinically by prolonged skin bleeding time, normal clot retraction and thrombocytopenia with large and morphologically abnormal platelets, and biochemically by the absence of platelet membrane glycoproteins (GP)Ib, V and IX...
⏩Bernard-Soulier syndrome (BSS) also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts.⠀...
Bernard-Soulier Syndrome is an autosomal recessively transmitted disorder characterized by the absence of glycoprotein Ib/IX (GPIb/IX), which binds von Willebrand Factor (vWF), resulting in defective...Lambert M. SurhoneMariam T. TennoeSusan F. Henssonow...
Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare as only ~100 cases...
Bernard-Soulier syndrome (bĕr-năr′sool-yā′) [Jean A. Bernard, Fr. hematologist, 1907-2006; Jean-Pierre Soulier, Fr. hematologist, 1915-2003] An autosomal recessive bleeding disorder marked by an inherited deficiency of a platelet glycoprotein. The platelets are large. Bleeding results ...
Abbreviations: BSS, Bernard-Soulier syndrome; ITP, idiopathic thrombocytopenic purpura; OCP, oral contraceptive; PRP, platelet-rich plasma; BT, bleeding time (normal, <5 minutes); RIPAS, ristocetin-induced platelet aggregation; vWF, von Willebrand factor; vWD, von Willebrand disease. Consanguinity of...
1. Berndt MC, Andrews RK: Bernard-Soulier syndrome. Haematologica 2011;96:355-359. 2. Kunishima S, Kamiya T, Saito H: Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol 2002;76:319-327. 3. Lanza F: Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet ...
巨大血小板综合征又称Bernard-Soulier综合征(Bernard-Soulier syndrome,BSS),以轻、中度的血小板减少,血小板体积增大,出血时间延长,凝血酶原消耗不良为特征,这是一种常染色体隐性遗传血小板黏附功能缺陷性出血疾病。小贴士 病变部位: 全身 就诊科室: 小儿科 输血科 典型症状: 斑疹 紫绀 月经量多 鼻出血 其他症状 ...