巨大血小板综合征GP Ⅸ基因纯合突变1例并文献复习

A case report and literature review of Bernard-Soulier syndrome with GP Ⅸ hemozygotic mutations

目的报道1例巨大血小板综合征GPⅨ基因纯合突变患儿,并探讨其临床表现及实验室检查特点,梳理诊断思路和治疗方法。方法回顾性分析1例巨大血小板综合征GPⅨ基因突变患儿的临床特征、实验室检查、基因测序及诊治经过,并复习相关文献和讨论。结果 14岁女性患儿,表现为反复鼻衄、月经量大、血小板减少、血小板体积增大、血红蛋白降低。GPⅨ基因纯合突变:[c.105G>A,p.35W>X],父母热点基因突变验证显示父亲为杂合携带者,母亲不存在相应位点突变。结论本研究患儿是GPⅨ基因突变、血小板膜糖蛋白缺陷所致的出血疾病,早期诊断、早期预防和正确治疗利于患儿健康成长。

Objective To report 1 case of Bernard-Soulier syndrome（BSS） with GPⅨ hemozygotic mutations, review its clinical and laboratory characteristics and explore new diagostic and therapeutic methods. Method The clinical material of one BSS case with GPⅨ mutations were analyzed and related literature were reviewed. Result We present the case of a 14-year-old girl manifesting recurrent epistaxis, hyper-menorrhea, thrombocytopenia, gaient platelet and lower hemoglobin. After genetic analyses, we identifid hemozygotic mutations [c.105G〉A, p.35W〉X] in the GPⅨ gene. Parents detecting proved that her father is a carrier and her mather don＇t have corresponding locus mutation. Conclusion This BSS case is a severe bleeding disorder due to GPⅨ mutation, defects in platelet membrane glycoproteins（GP） Ⅰb-Ⅸ/Ⅴcomplex. Early diagnosis, prevention and correct treatment may help in children＇s healthy growth.