Suppr超能文献

大疱性表皮松解症的综合管理策略:当前见解

Integrated Management Strategies for Epidermolysis Bullosa: Current Insights.

作者信息

Sait Haseena, Srivastava Somya, Saxena Deepti

机构信息

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

出版信息

Int J Gen Med. 2022 May 24;15:5133-5144. doi: 10.2147/IJGM.S342740. eCollection 2022.

Abstract

Epidermolysis bullosa (EB) is a group of rare genodermatoses that is characterized by skin fragility resulting from minor trauma. There are four major subtypes, namely, EB simplex, junctional EB, dystrophic EB and Kindler EB, depending upon the localization of defective protein and resulting plane of blister formation. The phenotype is heterogeneous in terms of severity and majority of them present at birth or neonatal period. Currently, the treatment is mainly supportive and requires multidisciplinary care. The complex molecular pathology creates difficulty in discovering a unified curative treatment approach. But with arduous efforts, significant progress has been made in the development of treatment strategies in the last decade. The management strategies range from targeting the underlying causative factor to symptom-relieving approaches, and include gene, mRNA, protein, cell and combination therapies. In this review, we enumerate the promising approaches that are currently under various stages of investigation to provide effective treatment for patients with EB.

摘要

大疱性表皮松解症(EB)是一组罕见的遗传性皮肤病,其特征是轻微创伤导致皮肤脆弱。根据缺陷蛋白的定位和水疱形成的平面,有四种主要亚型,即单纯性EB、交界性EB、营养不良性EB和Kindler EB。其表型在严重程度上具有异质性,大多数在出生时或新生儿期出现。目前,治疗主要是支持性的,需要多学科护理。复杂的分子病理学使得难以找到统一的治愈性治疗方法。但经过艰苦努力,在过去十年中治疗策略的发展取得了重大进展。管理策略从针对潜在病因到缓解症状的方法,包括基因、mRNA、蛋白质、细胞和联合疗法。在这篇综述中,我们列举了目前处于不同研究阶段的有前景的方法,以为EB患者提供有效的治疗。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验