1st Department of Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, Athens, Greece.
1st Propaedeutic Department of Surgery, National and Kapodistrian University of Athens, Hippocration General Hospital, Athens, Greece.
Int J Colorectal Dis. 2021 May;36(5):903-910. doi: 10.1007/s00384-020-03812-7. Epub 2021 Jan 7.
Diverticular disease (DD) refers to the presence of diverticula throughout the gastrointestinal (GI) tract, mainly along colon. DD might evolve into diverticulitis that is accompanied by severe clinical presentation, which includes abscess formation, perforation, stricture, obstruction and/or fistula.
The aim of the present review is to summarize the role of molecular and genetic factors in DD development, as well as their possible contribution towards new prognostic indicators, diagnostic algorithms and new therapeutic approaches.
Except from common predisposing parameters, several genetic mutations, immune factors, neurotransmitters, hormones and protein dysfunctions have been associated to the early onset of DD symptoms, pathogenesis and prognosis of the disease. Specific structural changes in the colonic wall, altered matrix composition and compromised motility have been verified as possible pathogenic factors for the development of DD. Dysregulation in peristaltic activity and reduced ability of the longitudinal muscle to relax following contraction has been also associated with DD evolution. In addition, it has been suspected that genetic defects combined with alterations in intestinal microbiota might play an important role in diverticulitis presentation.
憩室病（DD）是指胃肠道（GI）整个消化道都存在憩室，主要在结肠。DD 可能发展为憩室炎，伴有严重的临床表现，包括脓肿形成、穿孔、狭窄、梗阻和/或瘘管。
本综述的目的是总结分子和遗传因素在 DD 发展中的作用，以及它们对新的预后指标、诊断算法和新的治疗方法的可能贡献。
除了常见的易患因素外，一些遗传突变、免疫因素、神经递质、激素和蛋白质功能障碍与 DD 症状的早期出现、疾病的发病机制和预后有关。结肠壁的特定结构变化、基质组成的改变以及运动功能受损被认为是 DD 发展的可能致病因素。蠕动活动的失调以及纵向肌在收缩后放松的能力降低也与 DD 的演变有关。此外，人们怀疑遗传缺陷与肠道微生物群的改变相结合可能在憩室炎的发生中起重要作用。
