BLOOMS SYNDROME
BLOOMS SYNDROME
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DOI：
10.1016/s0733-8635(18)30101-3
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发表时间：
1995-01-01
影响因子：
2.4
通讯作者：
GERMAN, J
中科院分区：
文献类型：
--
作者：
GERMAN, J
Bloom综合征是一种罕见的常染色体遗传性疾病，其主要临床特征是身材矮小。 具有诊断价值的伴随特征包括：对阳光敏感的面部皮肤损害、位于身体任何部位的过度分界清楚的色素沉着和色素减退皮肤损害以及由于免疫缺陷引起的细菌感染数量增加。 在布卢姆综合征中，并发症是可怕的：癌症，慢性肺病和糖尿病。 在一般人群中常见的类型和部位的癌症经常出现，而且异常早。 Bloom综合征细胞是超变的，过多的体细胞突变是导致许多临床特征的原因。 临床诊断通过细胞遗传学证实，表现出特征性的染色体不稳定性。
Bloom's syndrome is a rare autosomal recessively transmitted disorder, the main clinical feature of which is small body size. A sun-sensitive, erythematous facial skin lesion, an excess of well-demarcated hyper- and hypopigmented skin lesions located anywhere on the body, and increased numbers of bacterial infections due to immunodeficiency are accompanying features of diagnostic value. In Bloom's syndrome, the complications are formidable: cancer, chronic lung disease, and diabetes. Cancers of the types and sites seen in the general population arise frequently and unusually early. Bloom's syndrome cells are hypermutable, and excessive numbers of somatic mutations are responsible for many of the clinical features. The clinical diagnosis is confirmed cytogenetically by demonstrating a characteristic chromosome instability.