Alsahli Saud, Al Anazi Aziz, Al Hatlani Maher M, Kashgari Amna, Al Sufiani Fahd, Alfadhel Majid, Al Mutairi Fuad
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
ACG Case Rep J. 2018 Dec 5;5:e93. doi: 10.14309/crj.2018.93. eCollection 2018.
Inflammatory bowel diseases (IBDs) are idiopathic autoimmune diseases that are characterized by inflammation of both the small and large intestine. Although IBD is common in the general population, the pathophysiology remains ambiguous. Clear understanding of IBD pathophysiology would be a major step toward curative treatment in the future. Hyperhomocysteinemia has been associated with multiple autoimmune diseases including IBD, but homocystinuria has not been associated with IBD before. We report a 9-year-old girl with Crohn's disease and homocystinuria. Her gastrointestinal symptoms improved significantly upon classical homocystinuria treatment, and her last colonoscopy showed a pronounced remission. This case supports the inflammatory role of homocysteine in the gastrointestinal tract and the association between hyperhomocysteinemia and IBD manifestations.
炎症性肠病（IBD）是一种特发性自身免疫性疾病，其特征是小肠和大肠均发生炎症。尽管IBD在普通人群中很常见，但其病理生理学仍不明确。清晰地了解IBD病理生理学将是未来实现治愈性治疗的重要一步。高同型半胱氨酸血症与包括IBD在内的多种自身免疫性疾病有关，但同型胱氨酸尿症此前尚未与IBD相关联。我们报告了一名患有克罗恩病和同型胱氨酸尿症的9岁女孩。在接受经典的同型胱氨酸尿症治疗后，她的胃肠道症状显著改善，她的最后一次结肠镜检查显示病情明显缓解。该病例支持同型半胱氨酸在胃肠道中的炎症作用以及高同型半胱氨酸血症与IBD表现之间的关联。
