Fanconi anemia and its diagnosis.
Fanconi anemia and its diagnosis.
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DOI：
10.1016/j.mrfmmm.2009.01.013
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发表时间：
2009-07-31
影响因子：
2.3
通讯作者：
Auerbach, Arleen D.
中科院分区：
文献类型：
--
作者：
Auerbach, Arleen D.
关键词：
范可尼贫血（FA）是一种遗传和表型异质性隐性疾病，其特征在于多种先天性畸形、进行性全血细胞减少以及易患血液系统恶性肿瘤和实体瘤。先天性异常因患者而异，可能影响骨骼形态发生以及任何主要器官系统。虽然这种高度可变的表型使得在某些患者中难以根据临床表现进行准确诊断，但是由二环氧丁烷（DEB）或其他交联剂诱导的染色体断裂的实验室研究为产前或产后诊断该疾病提供了独特的细胞标志物。基于对DNA交联剂的异常反应的诊断可用于鉴定贫血前期患者以及再生障碍性贫血或白血病患者，这些患者可能具有或可能不具有与综合征相关的物理特征。本综述将介绍我们目前的知识，关于不同的表型表现FA和程序的基础上诊断异常DNA损伤反应。
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both hematologic malignancies and solid tumors. Congenital anomalies vary from patient to patient and may affect skeletal morphogenesis as well as any of the major organ systems. Although this highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, laboratory study of chromosomal breakage induced by diepoxybutane (DEB) or other crosslinking agents provides a unique cellular marker for the diagnosis of the disorder either prenatally or postnatally. Diagnosis based on abnormal response to DNA crosslinking agents can be used to identify the pre-anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. This overview will present our present knowledge regarding the varied phenotypic manifestations of FA and procedures for diagnosis based upon abnormal DNA damage responses.
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影响因子：
20.3
作者：
BUTTURINI, A;GALE, RP;AUERBACH, AD
通讯作者：
AUERBACH, AD
影响因子：
20.3
作者：
Kutler, DI;Singh, B;Auerbach, AD
通讯作者：
Auerbach, AD
影响因子：
158.5
作者：
GLUCKMAN, E;BROXMEYER, HE;BOYSE, EA
通讯作者：
BOYSE, EA
影响因子：
--
作者：
Kutler, DI;Auerbach, AD;Singh, B
通讯作者：
Singh, B
影响因子：
3.2
作者：
Eyal, Ori;Blum, Samantha;Rose, Susan R.
通讯作者：
Rose, Susan R.