Sarnelli Giovanni, D'Alessandro Alessandra, Pesce Marcella, Palumbo Ilaria, Cuomo Rosario
Giovanni Sarnelli, Alessandra D'Alessandro, Marcella Pesce, Ilaria Palumbo, Rosario Cuomo, Gastroenterology Unit, Department of Clinical Medicine and Surgery, University of Naples "Federico II", 80131 Naples, Italy.
World J Gastrointest Pathophysiol. 2013 Nov 15;4(4):65-73. doi: 10.4291/wjgp.v4.i4.65.
Motility disorders of the upper gastrointestinal tract encompass a wide range of different diseases. Esophageal achalasia and functional dyspepsia are representative disorders of impaired motility of the esophagus and stomach, respectively. In spite of their variable prevalence, what both diseases have in common is poor knowledge of their etiology and pathophysiology. There is some evidence showing that there is a genetic predisposition towards these diseases, especially for achalasia. Many authors have investigated the possible genes involved, stressing the autoimmune or the neurological hypothesis, but there is very little data available. Similarly, studies supporting a post-infective etiology, based on an altered immune response in susceptible individuals, need to be validated. Further association studies can help to explain this complex picture and find new therapeutic targets. The aim of this review is to summarize current knowledge of genetics in motility disorders of the upper gastrointestinal tract, addressing how genetics contributes to the development of achalasia and functional dyspepsia respectively.
上消化道动力障碍涵盖了广泛的不同疾病。食管贲门失弛缓症和功能性消化不良分别是食管和胃动力受损的代表性疾病。尽管它们的患病率各不相同,但这两种疾病的共同之处在于对其病因和病理生理学的了解不足。有证据表明,这些疾病存在遗传易感性,尤其是贲门失弛缓症。许多作者研究了可能涉及的基因,强调自身免疫或神经学假说,但可用数据非常少。同样,基于易感个体免疫反应改变支持感染后病因的研究也需要得到验证。进一步的关联研究有助于解释这一复杂情况并找到新的治疗靶点。本综述的目的是总结上消化道动力障碍遗传学的现有知识,分别探讨遗传学如何导致贲门失弛缓症和功能性消化不良的发生。