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维生素B替代治疗使一名恶性贫血患者孤立性20号染色体缺失逆转

Reversal of isolated 20q deletion with vitamin B replacement in a patient with pernicious anaemia.

作者信息

Cingam Shashank Reddy, Koshy Nebu, Veillon Diana, Peddi Prakash

机构信息

Department of Internal Medicine, Louisiana State University Health Sciences Center- Shreveport, LA, USA.

Division of Hematology and Oncology, Louisiana State University Health Sciences Center-Shreveport, LA, USA.

出版信息

BMJ Case Rep. 2017 Mar 8;2017:bcr2016218689. doi: 10.1136/bcr-2016-218689.

Abstract

Severe vitamin B deficiency is well known to cause morphological alterations in bone marrow. In rare instances, these myelodysplastic and megaloblastic changes can coexist with cytogenetic abnormalities. Here, we report a case of a 38-year-old African-American woman with pernicious anaemia, who was found to have an isolated 20q deletion and which resolved after vitamin B replacement. We also discuss various mechanisms in which vitamin B deficiency can lead to chromosomal abnormalities. A literature review is also performed to evaluate various other chromosomal aberrations associated with B deficiency.

摘要

众所周知,严重的维生素B缺乏会导致骨髓形态学改变。在罕见情况下,这些骨髓发育异常和巨幼细胞改变可与细胞遗传学异常同时存在。在此,我们报告一例38岁患有恶性贫血的非裔美国女性病例,该患者被发现存在孤立的20号染色体长臂缺失,在补充维生素B后该缺失得以缓解。我们还讨论了维生素B缺乏导致染色体异常的各种机制。此外,还进行了文献综述以评估与维生素B缺乏相关的其他各种染色体畸变。

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