Al-Beltagi Mohammed, Saeed Nermin, Bediwy Adel, Elbeltagi Reem
Department of Paediatrics, Faculty of Medicine, Tanta University, Tanta 31511, Alghrabia, Egypt.
Department of Pediatric, University Medical Center, King Abdulla Medical City, Arabian Gulf University, Manama 26671, Bahrain.
World J Methodol. 2025 Dec 20;15(4):102408. doi: 10.5662/wjm.v15.i4.102408.
Gastrointestinal (GI) manifestations are prevalent in genetic myopathies, posing significant diagnostic and management challenges.
To synthesize evidence on the diagnostic approaches, management strategies, patient perspectives, and future research directions regarding GI symptoms in genetic myopathies.
A systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. We searched PubMed, Scopus, EMBASE, and Web of Science from inception to December 2024. Eligible studies reported GI manifestations in genetic myopathies, including clinical evaluations, imaging, physiological tests, histopathology, and genetic analyses. Inclusion criteria encompassed original research studies, review articles, case reports, and clinical guidelines published in peer-reviewed journals. Exclusion criteria included conference abstracts without full-text availability and non-peer-reviewed sources. Two independent reviewers screened studies and extracted data. They assessed methodological quality using the Newcastle-Ottawa Scale for observational studies, A MeaSurement Tool to Assess Systematic Reviews for systematic reviews, and the Joanna Briggs Institute checklist for case reports. A systematic narrative synthesis was employed to summarize the findings.
A total of 234 studies met the inclusion criteria. GI manifestations varied widely, with dysphagia, gastroesophageal reflux, abdominal pain, constipation, diarrhea, and fecal incontinence being the most frequently reported symptoms. The included studies highlighted a multidisciplinary diagnostic approach incorporating clinical assessment, imaging, physiological testing, histopathology, and genetic testing. Management strategies ranged from dietary interventions and rehabilitative therapies to pharmacological treatments and surgical procedures. Patient perspectives underscored the significant impact of GI symptoms on quality of life, social interactions, and emotional well-being. The main limitations of the included studies were high heterogeneity in study design, small sample sizes, and the potential risk of bias due to limited methodological rigor in some reports.
This review underscores the complexity of GI manifestations in genetic myopathies and the need for a comprehensive, multidisciplinary management approach. Future research should focus on elucidating molecular mechanisms, identifying biomarkers, and developing targeted therapies to improve patient outcomes. The findings have implications for both clinical practice and public health, emphasizing the necessity of early diagnosis and personalized management strategies.
胃肠道（GI）表现在遗传性肌病中很常见，给诊断和管理带来了重大挑战。
综合关于遗传性肌病中胃肠道症状的诊断方法、管理策略、患者观点及未来研究方向的证据。
一项系统评价遵循了《系统评价和Meta分析的首选报告项目2020》指南。我们检索了从创刊到2024年12月的PubMed、Scopus、EMBASE和科学网。符合条件的研究报告了遗传性肌病中的胃肠道表现，包括临床评估、影像学、生理测试、组织病理学和基因分析。纳入标准包括在同行评审期刊上发表的原创研究、综述文章、病例报告和临床指南。排除标准包括无全文的会议摘要和非同行评审来源。两名独立评审员筛选研究并提取数据。他们使用纽卡斯尔-渥太华量表评估观察性研究的方法质量，使用评估系统评价的测量工具评估系统评价，使用乔安娜·布里格斯研究所病例报告清单评估病例报告。采用系统叙述性综合方法总结研究结果。
共有234项研究符合纳入标准。胃肠道表现差异很大，吞咽困难、胃食管反流、腹痛、便秘、腹泻和大便失禁是最常报告的症状。纳入的研究强调了一种多学科诊断方法，包括临床评估、影像学、生理测试、组织病理学和基因检测。管理策略从饮食干预和康复治疗到药物治疗和手术程序不等。患者观点强调了胃肠道症状对生活质量、社交互动和情绪健康的重大影响。纳入研究的主要局限性是研究设计的高度异质性、样本量小以及一些报告中方法学严谨性有限导致的潜在偏倚风险。
本综述强调了遗传性肌病中胃肠道表现的复杂性以及全面、多学科管理方法的必要性。未来的研究应侧重于阐明分子机制、识别生物标志物和开发靶向治疗以改善患者预后。这些发现对临床实践和公共卫生都有影响，强调了早期诊断和个性化管理策略的必要性。
