Background: Bernard-Soulier Syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder of platelet function. Pregnancy in BSS is associated with a high risk of serious bleeding for both mother and neon...Background: Bernard-Soulier Syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder of platelet function. Pregnancy in BSS is associated with a high risk of serious bleeding for both mother and neonate, and current data show no consensual approach. Aim: To report the case of a pregnant woman with BSS, in order to provide more information about management of these cases. Case Presentation: This case report describes a successful pregnancy outcome in a woman with BSS who was closely monitored throughout pregnancy and postpartum period, and had a judiciously planned birth. Conclusion: Management of BSS during pregnancy is still unclear. However, it is important to strictly control platelet counts and plan the birth in advance.展开更多
目的对1例初步诊断为巨大血小板综合征(BSS)患者进行确诊。方法用流式细胞术(FCM)检测了患者血小板膜糖蛋白(GP)Ⅰb、Ⅲa和Ⅸ的含量,并与10名正常人的检测结果作了比较。结果 BSS 患者血小板膜 GP Ⅰ b 和Ⅸ的含量,仅相当于正常人的3.12...目的对1例初步诊断为巨大血小板综合征(BSS)患者进行确诊。方法用流式细胞术(FCM)检测了患者血小板膜糖蛋白(GP)Ⅰb、Ⅲa和Ⅸ的含量,并与10名正常人的检测结果作了比较。结果 BSS 患者血小板膜 GP Ⅰ b 和Ⅸ的含量,仅相当于正常人的3.12%和0.55%,而 GP Ⅲ a 的水平却为正常人含量的167.71%。患者血液中平均血小板体积为23.2f1,巨大血小板(>24f1)占12%。血涂片中巨大血小板占9%。结论患者符合 BSS 的诊断。FCM 是一种简便、快速、准确的 BSS诊断方法,尤其有助于不典型 BSS 患者的诊断。展开更多
文摘Background: Bernard-Soulier Syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder of platelet function. Pregnancy in BSS is associated with a high risk of serious bleeding for both mother and neonate, and current data show no consensual approach. Aim: To report the case of a pregnant woman with BSS, in order to provide more information about management of these cases. Case Presentation: This case report describes a successful pregnancy outcome in a woman with BSS who was closely monitored throughout pregnancy and postpartum period, and had a judiciously planned birth. Conclusion: Management of BSS during pregnancy is still unclear. However, it is important to strictly control platelet counts and plan the birth in advance.
文摘目的对1例初步诊断为巨大血小板综合征(BSS)患者进行确诊。方法用流式细胞术(FCM)检测了患者血小板膜糖蛋白(GP)Ⅰb、Ⅲa和Ⅸ的含量,并与10名正常人的检测结果作了比较。结果 BSS 患者血小板膜 GP Ⅰ b 和Ⅸ的含量,仅相当于正常人的3.12%和0.55%,而 GP Ⅲ a 的水平却为正常人含量的167.71%。患者血液中平均血小板体积为23.2f1,巨大血小板(>24f1)占12%。血涂片中巨大血小板占9%。结论患者符合 BSS 的诊断。FCM 是一种简便、快速、准确的 BSS诊断方法,尤其有助于不典型 BSS 患者的诊断。
