无光敏性的毛发硫营养不良。生化、超微结构及DNA修复研究。
Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.
作者信息
Fois A, Balestri P, Calvieri S, Zampetti M, Giustini S, Stefanini M, Lagomarsini P
机构信息
Clinica Pediatrica Università di Siena, Italy.
出版信息
Eur J Pediatr. 1988 May;147(4):439-41. doi: 10.1007/BF00496431.
A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membrane-bound vacuoles filled with granular-filamentous material. These findings could indicate a disturbance in the protein metabolism in tissues of ectodermal origin, explaining also the functional abnormalities of the central nervous system in TTD patients. The results of cellular DNA repair studies after UV irradiation in cultured fibroblasts showed normal levels of unscheduled DNA synthesis. This finding indicates that UV hypersensitivity is not constantly present in TTD.
报道了一名8岁女童患无光敏性的毛发硫营养不良（TTD）病例。对角质形成细胞进行电子显微镜（EM）检查显示，细胞质中的纤维束比正常细胞的更细且电子密度更低，还有充满颗粒状丝状物质的大的膜结合空泡。这些发现可能表明外胚层来源组织中的蛋白质代谢紊乱，这也解释了TTD患者中枢神经系统的功能异常。对培养的成纤维细胞进行紫外线照射后细胞DNA修复研究的结果显示，非预定DNA合成水平正常。这一发现表明，TTD中并非始终存在紫外线超敏反应。
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