类早衰科凯恩综合征

Anastasiya L. Kungurtseva, A. Vitebskaya
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引用次数: 0

摘要

科克恩综合征是一种罕见的遗传病,属于与 DNA 修复功能受损有关的早衰综合征。该综合征为常染色体隐性遗传,由 ERCC8、ERCC6、XPB(ERCC3)、XPD(ERCC2)和 XPG(ERCC5)基因的致病变体引起。其发病率为每 250 万人中有 1 例。临床表现包括神经、心血管和肌肉骨骼系统受损、严重发育迟缓和体重不足。这些患者的平均寿命从 5 岁到 30 岁不等,取决于疾病的类型和严重程度。目前尚无病理治疗方法。本文介绍了有关该疾病诊断和治疗的最新研究成果。
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Progeroid Cockayne Syndrome
Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG (ERCC5) genes. Its prevalence is 1 case per 2.5 million people. The clinical signs include nervous, cardiovascular and musculoskeletal systems impairments, severe growth retardation, and body weight deficiency. The average life expectancy of these patients varies from 5 to 30 years and depends on the disease type and severity. There is no pathogenetic treatment. This article presents the results of the latest research on the disease diagnosis and management.
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