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[遗传性大疱性表皮松解症]

[Inherited epidermolysis bullosa].

作者信息

Lykova S G, Maksimova Yu V, Nemchaninova O B, Guseva S N, Omigov V V, Aidagulova S V

机构信息

Novosibirsk State Medical University, Ministry of Health of Russia, Novosibirsk, Russia.

出版信息

Arkh Patol. 2018;80(4):54-60. doi: 10.17116/patol201880454.

Abstract

To summarize an update on epidermolysis bullosa as a polymorphic group of inherited diseases with a failure of epidermal-dermal integrity. Emphasis is placed on the role of transmission electron microscopy in diagnosis and search directions for new types of the abnormality and its molecular markers. Despite numerous mutations in the genes encoding the components of desmosomes and epithelial basement membrane, the stereotyped manifestations of pathological processes in the group of epidermolysis bullosa have been identified. The paper gives a positive result of cell and gene therapies used by European scientists in the treatment of a 7-year-old child with borderline epidermolysis bullosa, which opens up new prospects for patients with butterfly disease that has long been considered fatal.

摘要

总结大疱性表皮松解症这一遗传性疾病多态性群体的最新情况,其特征为表皮与真皮完整性受损。重点介绍了透射电子显微镜在诊断中的作用以及该异常新类型及其分子标志物的研究方向。尽管编码桥粒和上皮基底膜成分的基因存在众多突变,但大疱性表皮松解症组病理过程的典型表现已被确定。本文给出了欧洲科学家对一名患有交界性大疱性表皮松解症的7岁儿童进行细胞和基因治疗的阳性结果,这为长期以来被认为致命的蝴蝶病患者开辟了新前景。

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