Sugita K, Suzuki N, Kojima T, Tanabe Y, Nakajima H, Hayashi A, Arima M
Pediatr Res. 1987 Jan;21(1):34-7. doi: 10.1203/00006450-198701000-00009.
We report a girl with Cockayne syndrome (CS) with atypical cellular features. We studied the ultraviolet (UV)-sensitivity of cultured fibroblast cells derived from this case and male CS siblings as positive controls. Cells from this female with CS displayed normal unscheduled DNA synthesis and repair replication capacity. However, the cells also displayed a less depressed level of RNA synthesis after UV irradiation, compared to control CS cells, and showed normal UV survival. This CS case with early onset of abnormalities had more serious clinical manifestations than the control CS siblings. These cytological results suggest that there is considerable clinical and cellular heterogeneity in CS and that cellular sensitivity to UV might not be as essential for the diagnosis of CS as previously thought.
我们报告了一名患有科凯恩综合征（CS）且具有非典型细胞特征的女孩。我们研究了源自该病例的培养成纤维细胞以及作为阳性对照的男性CS同胞的紫外线（UV）敏感性。该CS女性患者的细胞显示出正常的非预定DNA合成和修复复制能力。然而，与对照CS细胞相比，该细胞在紫外线照射后RNA合成水平的降低程度较小，并且显示出正常的紫外线存活率。这名异常发病较早的CS病例比对照CS同胞具有更严重的临床表现。这些细胞学结果表明，CS存在相当大的临床和细胞异质性，并且细胞对紫外线的敏感性可能不像以前认为的那样对CS的诊断至关重要。
