Bloom syndrome complicated by colonic cancer in a young Tunisian woman
Bloom syndrome complicated by colonic cancer in a young Tunisian woman
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DOI：
10.1016/j.clinre.2011.06.001
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发表时间：
2011-10-01
影响因子：
2.7
通讯作者：
Braham, Ahlem
中科院分区：
文献类型：
--
作者：
Benjazia, Elhem;Turki, Hajer;Braham, Ahlem
Bloom综合征（BS）是一种常染色体隐性遗传疾病，其特征是染色体不稳定，导致早期癌症的高风险。对于身材矮小、光敏感、不同程度免疫缺陷和性腺功能减退的患者，应考虑诊断。我们报告一个19岁的女性，历史的畸形功能和反复感染。在14岁时诊断为布卢姆综合征并经细胞遗传学证实。她患上了结肠癌，表现为静脉血栓形成和贫血。她在癌症诊断后15天去世。这是突尼斯人口中第一例确诊的布卢姆综合征登记病例。(C)2011年Elsevier Masson SAS。All rights reserved.
Bloom syndrome (BS) is an autosomal recessive inherited disorder characterized by chromosomal instability leading to a high risk of cancer at an early age. The diagnosis should be considered in patients with short stature, photosensitivity, variable degrees of immunodeficiency, and hypogonadism. We report a 19-year-old woman, with history of dysmorphic features and recurrent infections. The diagnosis of bloom syndrome was made and confirmed cytogenetically at the age of 14 years. She developed a colon cancer revealed by venous thrombosis and anemia. She died after 15 days of the cancer diagnosis. This is the first registrated case of confirmed Bloom syndrome in Tunisian population. (C) 2011 Elsevier Masson SAS. All rights reserved.