血栓形成
医学
格兰兹曼血栓形成症
兄弟姐妹
血小板紊乱
先天性角化不良
血小板
外科
儿科
骨髓
移植
免疫学
血小板聚集
DNA
端粒
发展心理学
生物
遗传学
心理学
作者
Sylvia Bellucci,Gandhi Damaj,Bernadette Boval,Vanderson Rocha,A Devergié,Ibrahim Yakoub‐Agha,Laurent Garderet,Patricia Muñóz,R Traineau,Gèrard Socié,Éliane Gluckman
标识
DOI:10.1038/sj.bmt.1702139
摘要
Glanzmann's thrombasthenia is an autosomal recessive disorder characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein IIb and IIIa. Usually, the disease leads to mild hemorrhage but sometimes bleeding is severe enough to be life-threatening. We report the case of a 16-year-old girl, presenting with very severe type 1 Glanzmann's thrombasthenia, successfully treated with an HLA-identical sibling bone marrow transplant (BMT). We also update the clinical and laboratory data of her brother, who had received a BMT 16 years ago for the same disease. In the light of these two cases and two others published in the literature, we discuss the indications for BMT from HLA-identical sibling donors in Glanzmann's thrombasthenia. Alloimmunization against the missing platelet GPIIb/IIIa complex and severity of bleeding episodes may constitute sufficient criteria for allogeneic BMT after careful assessment of the risk-benefit of such a procedure, although this remains exceptional in this disease. Bone Marrow Transplantation (2000) 25, 327-330.
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