Robey Benjamin S, Peery Anne F, Dellon Evan S
Center for Esophageal Disease and Swallowing, University of North Carolina School of Medicine, Chapel Hill, NC.
Center for Gastrointestinal Biology and Disease, Division of Gastroenterology and Hepatology, University of North Carolina School of Medicine, Chapel Hill, NC.
ACG Case Rep J. 2018 Jan 17;5:e5. doi: 10.14309/crj.2018.5. eCollection 2018.
Marfan syndrome is an autosomal dominant disorder involving mutation in the gene, which encodes fibrillin-1, a protein critical to maintain the integrity of connective tissue. A mutation in this gene can affect multiple organ systems, but it is not classically associated with gastrointestinal complications. We describe a man with Marfan syndrome with multiple small bowel diverticula leading to small intestinal bacterial overgrowth and recurrent small bowel perforations.
马凡综合征是一种常染色体显性疾病，涉及基因的突变，该基因编码原纤维蛋白-1，这是一种对维持结缔组织完整性至关重要的蛋白质。该基因的突变可影响多个器官系统，但传统上与胃肠道并发症无关。我们描述了一名患有马凡综合征的男性，他有多个小肠憩室，导致小肠细菌过度生长和反复的小肠穿孔。
