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着色性干皮病的当前治疗策略

Current Therapeutic Strategies of Xeroderma Pigmentosum.

作者信息

Hossain Mozammel, Hasan Ashraful, Shawan Mohammad Mahfuz Ali Khan, Banik Subrata, Jahan Iffat

机构信息

Department of Biochemistry and Molecular Biology, Jahangirnagar University, Dhaka, Bangladesh.

出版信息

Indian J Dermatol. 2021 Nov-Dec;66(6):660-667. doi: 10.4103/ijd.ijd_329_21.

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disease caused by a defect in the DNA repair system, exhibiting skin cancer on sun exposure. As it is an incurable disease, therapeutic strategies of this disease are critical. This review article takes an attempt to explore the current therapeutic advancements in XP. Different approaches including sun avoidance; surgical removal of cancerous lesions; laser and photodynamic therapy; use of retinoid, 5-fluorouracil, imiquimod, photolyase, and antioxidant; interferon therapy and gene therapy are chosen by doctors and patients to lessen the adverse effects of this disease. Among these options, sun avoidance, use of 5-fluorouracil and imiquimod, and interferon therapy are effective. However, some approaches including laser and photodynamic therapy, and the use of retinoids are effective against skin cancer having severe side effects. Furthermore, surgical removal of cancerous lesions and use of antioxidants are considered to be effective against this disease; however, efficacies of these are not experimentally determined. In addition, some approaches including oral vismodegib, immunotherapy, nicotinamide, acetohexamide, glimepiride-restricted diet are found to be effective to minimize the complications secondary to defects in the nucleotide excision repair (NER) system and also enhance the NER, which are under experimental level yet. Besides these, gene therapy, including the introduction of missing genes and genome edition, may be a promising approach to combat this disease, which is also not well established now. In the near future, these approaches may be effective tools to manage XP.

摘要

着色性干皮病(XP)是一种常染色体隐性遗传病,由DNA修复系统缺陷引起,在阳光照射下会出现皮肤癌。由于它是一种无法治愈的疾病,因此这种疾病的治疗策略至关重要。这篇综述文章试图探讨XP目前的治疗进展。医生和患者选择了不同的方法,包括避免日晒;手术切除癌性病变;激光和光动力疗法;使用维甲酸、5-氟尿嘧啶、咪喹莫特、光解酶和抗氧化剂;干扰素疗法和基因疗法,以减轻这种疾病的不良影响。在这些选择中,避免日晒、使用5-氟尿嘧啶和咪喹莫特以及干扰素疗法是有效的。然而,一些方法,包括激光和光动力疗法以及维甲酸的使用,虽然对皮肤癌有效,但有严重的副作用。此外,手术切除癌性病变和使用抗氧化剂被认为对这种疾病有效;然而,这些方法的疗效尚未通过实验确定。此外,一些方法,包括口服维莫德吉、免疫疗法、烟酰胺、醋磺己脲、格列美脲限制饮食,被发现对减少核苷酸切除修复(NER)系统缺陷继发的并发症有效,并且还能增强NER,这些仍处于实验阶段。除此之外,基因疗法,包括引入缺失基因和基因组编辑,可能是对抗这种疾病的一种有前途的方法,目前也尚未完善。在不久的将来,这些方法可能成为管理XP的有效工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a85b/8906321/5af9e7c5ab07/IJD-66-660-g001.jpg

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