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定义膀胱疼痛综合征/间质性膀胱炎的分子治疗靶点:揭示黏附分子

Defining Molecular Treatment Targets for Bladder Pain Syndrome/Interstitial Cystitis: Uncovering Adhesion Molecules.

作者信息

Inal-Gultekin Guldal, Gormez Zeliha, Mangir Naside

机构信息

Department of Physiology, Faculty of Medicine, Istanbul Okan University, Tuzla, Turkey.

Department of Applied Bioinformatics, Bingen Technical University of Applied Sciences, Bingen am Rhein, Germany.

出版信息

Front Pharmacol. 2022 Mar 25;13:780855. doi: 10.3389/fphar.2022.780855. eCollection 2022.

Abstract

Bladder pain syndrome/interstitial cystitis (BPS/IC) is a debilitating pain syndrome of unknown etiology that predominantly affects females. Clinically, BPS/IC presents in a wide spectrum where all patients report severe bladder pain together with one or more urinary tract symptoms. On bladder examination, some have normal-appearing bladders on cystoscopy, whereas others may have severely inflamed bladder walls with easily bleeding areas (glomerulations) and ulcerations (Hunner's lesion). Thus, the reported prevalence of BPS/IC is also highly variable, between 0.06% and 30%. Nevertheless, it is rightly defined as a rare disease (ORPHA:37202). The aetiopathogenesis of BPS/IC remains largely unknown. Current treatment is mainly symptomatic and palliative, which certainly adds to the suffering of patients. BPS/IC is known to have a genetic component. However, the genes responsible are not defined yet. In addition to traditional genetic approaches, novel research methodologies involving bioinformatics are evaluated to elucidate the genetic basis of BPS/IC. This article aims to review the current evidence on the genetic basis of BPS/IC to determine the most promising targets for possible novel treatments.

摘要

膀胱疼痛综合征/间质性膀胱炎(BPS/IC)是一种病因不明的使人衰弱的疼痛综合征,主要影响女性。临床上,BPS/IC表现形式多样,所有患者均报告有严重的膀胱疼痛以及一种或多种泌尿系统症状。膀胱检查时,一些患者膀胱镜检查显示膀胱外观正常,而另一些患者可能膀胱壁严重发炎,有易出血区域(点状出血)和溃疡(Hunner溃疡)。因此,BPS/IC的报告患病率也高度可变,在0.06%至30%之间。尽管如此,它仍被正确定义为罕见病(孤儿病编号:37202)。BPS/IC的发病机制在很大程度上仍不清楚。目前的治疗主要是对症和姑息治疗,这无疑增加了患者的痛苦。已知BPS/IC有遗传因素。然而,相关基因尚未明确。除了传统的遗传学方法外,还评估了涉及生物信息学的新型研究方法,以阐明BPS/IC的遗传基础。本文旨在综述目前关于BPS/IC遗传基础的证据,以确定可能的新治疗方法中最有前景的靶点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ad0d/8990855/600bc21f4d1e/fphar-13-780855-g001.jpg

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