Walz Amy, Lenzen Alicia, Curtis Brian, Canner Jason, Schneiderman Jennifer
a Department of Hematology/Oncology/Transplantation , Ann & Robert H. Lurie Children's Hospital , Chicago , IL , USA .
Platelets. 2015;26(7):702-4. doi: 10.3109/09537104.2014.987225. Epub 2014 Dec 30.
Glanzmann thrombasthenia (GT) is a rare, autosomal recessive coagulopathy characterized by either qualitative or quantitative abnormalities of the membrane glycoprotein αIIbβ3 complex leading to bleeding tendencies, ranging from purpura to life-threatening hemorrhage. Although patients can be managed with supportive measures including platelet transfusions, complications such as alloimmunization are possible. Allogeneic stem cell transplantation (ASCT) can be indicated in severe cases of GT. We report the case of an eight-month-old girl diagnosed with moderate-severe GT, who was successfully treated with a reduced-intensity, human leukocyte antigen (HLA)-identical ASCT.
Glanzmann血小板无力症(GT)是一种罕见的常染色体隐性凝血障碍疾病,其特征是膜糖蛋白αIIbβ3复合物存在定性或定量异常,从而导致出血倾向,从紫癜到危及生命的大出血不等。尽管患者可通过包括血小板输注在内的支持性措施进行治疗,但仍有可能出现诸如同种免疫等并发症。严重的GT病例可考虑进行异基因干细胞移植(ASCT)。我们报告了一例8个月大被诊断为中重度GT的女孩,她通过降低强度的、人类白细胞抗原(HLA)匹配的ASCT获得成功治疗。