巨大血小板综合征1例报告并文献复习
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摘要
<正>巨大血小板综合征(Bernard-Soulier syndrome,BSS)是一种罕见的遗传性出血性疾病,通常呈常染色体隐性遗传,极少数呈常染色体显性遗传[1],临床表现以出血为主,如皮肤紫癜、鼻出血、牙龈出血及创伤后出血等。其分子基础为编码血管假性血友病相关因子(vWF)受体的血小板膜糖蛋白(GP)Ⅰb-Ⅸ-Ⅴ复合物的合成或表达缺陷,以及该复合物的重要组成成分GPⅠbα、GPⅠbβ和GPⅨ基因缺陷,使血小板不能黏附于受损的血管
Bernard-Soulier syndrome(BSS)is a rare congenital autosomal recessive bleeding disorder,characterized by purpura,epistaxis,gingival bleeding and menorrhagia.Here,we report a case of BSS,whose parents have a consanguineous marriage.The patient had repeated nosebleeds from childhood but was misdiagnosed with thrombocytopenia purpura.Blood smear revealed abnormal platelet in peripheral blood,and CD42b(GPⅠb)expression was reduced on the surface of platelet using flow cytometry examination.The diagnosis of BSS was confirmed by sequencing which demonstrated bilateral GPⅠbαgene mutation.The patient was discharged from hospital with relief of symptoms after platelet transfusions.In summary,for patients with thrombocytopenia,morphological screening of platelet combined with proper laboratory examination facilitates early diagnosis of BSS.
Bernard-Soulier syndrome(BSS)is a rare congenital autosomal recessive bleeding disorder,characterized by purpura,epistaxis,gingival bleeding and menorrhagia.Here,we report a case of BSS,whose parents have a consanguineous marriage.The patient had repeated nosebleeds from childhood but was misdiagnosed with thrombocytopenia purpura.Blood smear revealed abnormal platelet in peripheral blood,and CD42b(GPⅠb)expression was reduced on the surface of platelet using flow cytometry examination.The diagnosis of BSS was confirmed by sequencing which demonstrated bilateral GPⅠbαgene mutation.The patient was discharged from hospital with relief of symptoms after platelet transfusions.In summary,for patients with thrombocytopenia,morphological screening of platelet combined with proper laboratory examination facilitates early diagnosis of BSS.
引文
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[5]Savoia A,Kunishima S,De Rocco D,et al.Spectrum of the mutations in Bernard-Soulier syndrome[J].Hum Mut,2014,35:1033-1045.
[6]Okoli S,Madan B,Mwirigi A,et al.A diagnostic dilemma:variant Bernard-Soulier syndrome,a difficult clinical and genetic diagnosis[J].Haemophilia,2015,21:510-513.
[7]Mishima S,Nakao K,Ikeno M,et al.Hemostasis management of tooth extraction in a patient with BernardSoulier syndrome and a severe bleeding tendency:Acase report[J].J Oral Maxillofac Surg Med Pathol,2014,27:525-528.
[8]Balci YI,G9zkeser E,Polat A,et al.Perioperative management of tonsilloadenoidectomy and circumcision of a patient with Bernard-Soulier syndrome:case report[J].Blood Coagul Fibrinolysis,2014,25:907-908.
[9]Kanaji S,Fahs SA,Ware J,et al.Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome[J].J Thromb Haemost,2014,12:1726-1732.
[2]Lopez JA,Andrews RK,Afshar-Kharghan V,et al.Bernard-Soulier syndrome[J].Blood,1998,91:4397-4418.
[3]Lanza F.Bernard-Soulier syndrome(hemorrhagiparous thrombocytic dystrophy)[J].Orphanet J Rare Dis,2006,1:1-6.
[4]Kunishima S,Imai T,Kobayashi R,et al.Bernard-Soulier syndrome caused by a hemizygous GPIbβmutation and 22q11.2deletion[J].Pediatr Int,2013,55:434-437.
[5]Savoia A,Kunishima S,De Rocco D,et al.Spectrum of the mutations in Bernard-Soulier syndrome[J].Hum Mut,2014,35:1033-1045.
[6]Okoli S,Madan B,Mwirigi A,et al.A diagnostic dilemma:variant Bernard-Soulier syndrome,a difficult clinical and genetic diagnosis[J].Haemophilia,2015,21:510-513.
[7]Mishima S,Nakao K,Ikeno M,et al.Hemostasis management of tooth extraction in a patient with BernardSoulier syndrome and a severe bleeding tendency:Acase report[J].J Oral Maxillofac Surg Med Pathol,2014,27:525-528.
[8]Balci YI,G9zkeser E,Polat A,et al.Perioperative management of tonsilloadenoidectomy and circumcision of a patient with Bernard-Soulier syndrome:case report[J].Blood Coagul Fibrinolysis,2014,25:907-908.
[9]Kanaji S,Fahs SA,Ware J,et al.Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome[J].J Thromb Haemost,2014,12:1726-1732.