Link between mutations in ACVRL1 and PLA2G4A genes and chronic intestinal ulcers:A case report and review of literature  

作　　者：Yong-Jing Tang Jian Zhang Jie Wang Ren-Dong Tian Wei-Wei Zhong Ben-Sheng Yao Bing-Yu Hou Ying-Hua Chen Wei He Yi-Huai He 

机构地区：[1]Department of Infectious Diseases,The Affiliated Hospital of Zunyi Medical University,Zunyi 563000,Guizhou Province,China [2]Department of Gastroenterology,Dafang County People's Hospital,Bijie 551600,Guizhou Province,China [3]Department of Internal Medicine,Puchang Branch,Medical Community,Suiyang County People's Hospital,Zunyi 563300,Guizhou Province,China [4]Department of Infectious Diseases,Jingmen Central Hospital,Jingmen 448000,Hubei Province,China [5]Department of Infectious Diseases,Dafang County People's Hospital,Bijie 551600,Guizhou Province,China

出　　处：《World Journal of Gastrointestinal Surgery》2024年第3期932-943,共12页世界胃肠外科杂志（英文版）（电子版）

基　　金：Supported by the Science and Technology Research Foundation of Guizhou Province,No.QKHJC-ZK[2022]YB642;Science and Technology Research Foundation of Hubei Province,No.2022BCE030;Science and Technology Research Foundation of Zunyi City,No.ZSKH-HZ(2022)344;Research Project on Traditional Chinese Medicine and Ethnic Medicine Science and Technology of Guizhou Provincial Administration of Traditional Chinese Medicine,No.QZYY-2023-021;Science and Technology Research Foundation of Bijie City,No.BKH[2022]8.

摘　　要：BACKGROUND Genetic factors of chronic intestinal ulcers are increasingly garnering attention.We present a case of chronic intestinal ulcers and bleeding associated with mu-tations of the activin A receptor type II-like 1(ACVRL1)and phospholipase A2 group IVA(PLA2G4A)genes and review the available relevant literature.CASE SUMMARY A 20-year-old man was admitted to our center with a 6-year history of recurrent abdominal pain,diarrhea,and dark stools.At the onset 6 years ago,the patient had received treatment at a local hospital for abdominal pain persisting for 7 d,under the diagnosis of diffuse peritonitis,acute gangrenous appendicitis with perforation,adhesive intestinal obstruction,and pelvic abscess.The surgical treat-ment included exploratory laparotomy,appendectomy,intestinal adhesiolysis,and pelvic abscess removal.The patient’s condition improved and he was dis-charged.However,the recurrent episodes of abdominal pain and passage of black stools started again one year after discharge.On the basis of these features and results of subsequent colonoscopy,the clinical diagnosis was established as in-flammatory bowel disease(IBD).Accordingly,aminosalicylic acid,immunotherapy,and related symptomatic treatment were administered,but the symptoms of the patient did not improve significantly.Further investigations revealed mutations in the ACVRL1 and PLA2G4A genes.ACVRL1 and PLA2G4A are involved in angiogenesis and coagulation,respectively.This suggests that the chronic intestinal ulcers and bleeding in this case may be linked to mutations in the ACVRL1 and PLA2G4A genes.Oral Kangfuxin liquid was administered to promote healing of the intestinal mucosa and effectively manage clinical symptoms.CONCLUSION Mutations in the ACVRL1 and PLA2G4A genes may be one of the causes of chronic intestinal ulcers and bleeding in IBD.Orally administered Kangfuxin liquid may have therapeutic potential.

关 键 词：Intestinal ulcers Crohn’s disease Ulcerative colitis Activin A receptor type II-like 1 Phospholipase A2 group 4A Case report 

分 类 号：R735.32[医药卫生—肿瘤]