骨髓衰竭的临床处理方法。
Clinical approach to marrow failure.
机构信息
Fred Hutchinson Cancer Research Center, Children's Hospital, University of Washington, Seattle, WA 98109, USA.
出版信息
Hematology Am Soc Hematol Educ Program. 2009:329-37. doi: 10.1182/asheducation-2009.1.329.
Abstract
The treatment and medical management of aplastic anemia fundamentally differ between patients with inherited versus acquired marrow failure; however, the diagnosis of an inherited bone marrow failure syndrome is frequently obscure. Recent exciting advances in our understanding of the molecular pathophysiology of the inherited bone marrow failure syndromes have resulted in a profusion of new tests to aid in diagnosis. This in turn has raised questions regarding the appropriate choice of testing for the patient presenting with aplastic anemia. Important clues to the diagnosis of an inherited marrow failure syndrome may be gleaned from careful attention to the clinical history, physical exam, and laboratory workup.
摘要
再生障碍性贫血的治疗和医学管理在遗传性和获得性骨髓衰竭患者之间有根本的不同；然而，遗传性骨髓衰竭综合征的诊断常常难以明确。近年来，我们对遗传性骨髓衰竭综合征的分子病理生理学的理解有了令人兴奋的进展，这导致了大量新的检测方法来帮助诊断。这反过来又引发了关于为出现再生障碍性贫血的患者选择适当的检测方法的问题。从仔细关注临床病史、体格检查和实验室检查结果中，可以找到诊断遗传性骨髓衰竭综合征的重要线索。
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