Lafforet D, Dupuy J M
Arch Fr Pediatr. 1978 Dec;35(10 Suppl):65-74.
UV-sensitivity is a common feature of several diseases including Xeroderma pigmentosum (XP), Cockayne syndrome (CS) and Bloom syndrome (BS). In 12 children with such diseases, cell viability and DNA repair following UV-irradiation as well as PHA transformation of lymphocytes were studied. In 5 of 6 XP cases, in 1 child with CS and in 1 of 2 children with BS, DNA repair and PHA transformation of lymphocytes showed extremely depressed values. A similar study was performed in 2 children with a rare association of XP and CS. Results suggest a relationship between these 2 diseases
紫外线敏感性是多种疾病的常见特征,包括着色性干皮病(XP)、科凯恩综合征(CS)和布卢姆综合征(BS)。对12名患有此类疾病的儿童进行了研究,检测了紫外线照射后的细胞活力、DNA修复情况以及淋巴细胞的PHA转化能力。在6例XP患者中的5例、1例CS患儿以及2例BS患儿中的1例中,淋巴细胞的DNA修复和PHA转化能力表现出极低的值。对2例患有罕见的XP与CS联合病症的儿童进行了类似研究。结果表明这两种疾病之间存在关联。