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[共济失调毛细血管扩张症]

[Ataxia telangiectasia].

作者信息

Hansen L K, Wulff K, Seersholm N J

机构信息

Odense Universitetshospital, børneafdelingen.

出版信息

Ugeskr Laeger. 1995 Apr 10;157(15):2134-8.

PMID:7652949
Abstract

Ataxia telangiectasia is a genetically determined multi-system disorder in which senile skin changes are at an early stage. The patients have progressive neurological disability, cellular and humoral immunodeficiencies and increased cancer incidence. Heterozygous carriers of the gene, estimated to comprise about 1% of the general population, have an increased risk of cancer. We have initiated an identification of a cohort of patients and their relatives in order to evaluate their cancer risk.

摘要

共济失调毛细血管扩张症是一种由基因决定的多系统疾病,其中老年皮肤变化处于早期阶段。患者有进行性神经功能残疾、细胞和体液免疫缺陷以及癌症发病率增加。该基因的杂合子携带者估计约占普通人群的1%,其患癌风险增加。我们已开始确定一组患者及其亲属,以评估他们的癌症风险。

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