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- W3029688557 abstract "目的提高对婴幼儿血小板无力症(GT)的认识，探讨基因检测对于GT早期诊断的重要性。方法报告1例婴儿期发病GT的诊断及家系基因检测图谱，检索国内和国外报道的GT病例，汇总并分析GT的临床特征及基因检测结果。结果患儿，男，9个月10 d，因反复皮肤瘀斑瘀点9个月、贫血1个月、多次鼻出血、黑便5 d就诊。实验室检查：血小板计数282×109/L，凝血功能正常，血块退缩异常，血小板对腺苷二磷酸(ADP)等生理诱聚剂反应低下，对瑞斯托霉素凝集反应正常。初步诊断为GT。基因检测示患儿为ITGA2B纯合突变c.481T>C(E4) p．C161R，父母亲均为杂合子携带者，家系里其他6人为该基因杂合子携带者，1人为纯合子患者。汇总分析国内相关报道，GT患者的典型表现为皮肤黏膜出血、易擦伤、紫癜、鼻出血、牙龈出血、月经过多，与国外报道类似。血小板膜糖蛋白Ⅱb(GPⅡb)2671C>T 、GPⅡb1750C>T、GPⅡb2334A>C和血小板膜糖蛋白Ⅲa1199G>A国内突变频率高。结论该患者检测的突变基因ITGA2B c．481T>C(E4)p.C161R为首次报道。基因检测可以提高GT诊断的准确性，对于婴幼儿GT的早期诊断有重要意义。" @default.
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- W3029688557 date "2017-08-05" @default.
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- W3029688557 title "Glanzmann′s thrombasthenia in infant: a pedigree analysis and literature review" @default.
- W3029688557 doi "https://doi.org/10.3760/cma.j.issn.2095-428x.2017.15.017" @default.
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