糖蛋白IX中Phe71Ser的点突变作为伯-苏综合征的遗传病因：病例报告
A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.
作者信息
Alsahafi Imtinan K, Al-Harbi Ibrahim, Aldor Shahad M, Albarakati Bilqis A, Alahmadi Ghaida B
机构信息
Faculty of Medicine Umm Al-Qurra University Mecca Saudi Arabia.
Department of Pediatrics Faculty of Medicine Umm Al-Qurra University Mecca Saudi Arabia.
出版信息
Clin Case Rep. 2018 Feb 27;6(4):686-689. doi: 10.1002/ccr3.1427. eCollection 2018 Apr.
We need to be aware of rare causes of persistent thrombocytopenia as Bernard-Soulier syndrome (BSS). When BSS is suspected based on family history and giant platelets, genetic test for mutations of GPIbIXV is necessary. Management varies once you recognize the cause. Platelets transfusion and antifibrinolytics are the mainstay of therapy.
我们需要意识到持续性血小板减少症的罕见病因，如伯纳德-索利尔综合征（BSS）。当根据家族史和巨大血小板怀疑患有BSS时，有必要对糖蛋白IbIXV突变进行基因检测。一旦明确病因，治疗方法会有所不同。血小板输注和抗纤溶药物是主要的治疗手段。
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