CYBB基因变异所致极早发型炎症性肠病的临床及基因变异特征  

Clinical and genetic characteristics of very-early-onset inflammatory bowel disease due to CYBB gene mutation

作　　者：米明冉 钟雪梅[1] 朱丹[1] 宫幼喆[1] 王福萍 张姌 Mi Mingran;Zhong Xuemei;Zhu Dan;Gong Youzhe;Wang Fuping;Zhang Ran(Department of Gastroenterology,Children's Hospital Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院消化内科,北京市100020

出　　处：《中国医学前沿杂志（电子版）》2022年第5期21-26,共6页Chinese Journal of the Frontiers of Medical Science(Electronic Version)

基　　金：首都儿科研究所附属儿童医院培育计划基金(PY-2019-08)。

摘　　要：目的了解CYBB基因变异所致,以极早发型炎症性肠病(very-early-onset inflammatory bowel disease,VEO-IBD)为首发表现的慢性肉芽肿病(chronic granulomatous disease,CGD)的临床及基因变异特征。方法对2017年、2018年于首都儿科研究所附属儿童医院消化内科诊治的2例因CYBB基因变异所致,以VEO-IBD为表现,最终确诊为CGD患儿的临床资料及基因检测结果进行回顾性分析。以“婴儿”“极早发型炎症性肠病”“慢性肉芽肿”、和“infant”“very-early-onset inflammatory bowel disease”“chronic granulomatous disease”“CYBB”为关键词,分别对中国知网、万方数据库、生物医学文献数据库(PubMed)自建库至2021年收录的文献进行检索,总结CGD患儿临床特征和基因突变特点。结果2例患儿起病年龄为1个月龄及1岁7月龄,确诊年龄为3月龄及1岁11月龄。临床均以VEO-IBD为首发表现,反复发热、排黏液脓血便且伴有肛周脓肿等肠道外感染;予常规抗感染治疗效果欠佳。结肠镜检查均示直、结肠多发溃疡。二代基因测序显示CYBB基因存在杂合半合子变异,确诊为CGD,予以防治感染及对症治疗,并建议及早行造血干细胞移植术治疗。通过检索相关文献报道的以VEO-IBD起病的CGD病例,临床发现以腹泻、便血等消化道症状为主,结合结肠镜检查,诊断为VEO-IBD,通过基因检测确诊CGD,多数病例治疗效果欠佳且病程迁延。结论对于临床表现为反复发热、排黏液脓血便且伴有肠道外感染的婴幼儿,应及早完善内镜检查并警惕CGD,需依靠基因检测明确诊断。Objective To investigate the clinical and genetic characteristics of chronic granulomatous disease(CGD)with very-early-onset inflammatory bowel diseases(VEO-IBD)as the first manifestation due to CYBB gene mutation.Method We retrospectively analyzed the clinical data and genetic testing results of patients presented as VEO-IBD,and treated at the Department of Gastroenterology,Children's Hospital of Capital Institute of Pediatrics in 2017 and 2018.Two cases were identified with CYBB gene mutation.Using"infant","very-early-onset inflammatory bowel disease","chronic granulomatous disease"and"CYBB"as keywords,we searched the literature collected from CNKI,Wanfang database and PubMed to summarize the clinical features and gene mutation characteristics of children with CGD.Result Of the 2 cases,the ages of onset were 1 month and 1 year and 7 months,and the ages at diagnosis were 3 months and 1 year and 11 months.They had VEO-IBD as the first clinical manifestation,with recurrent fever,mucopurulent stools and extra-intestinal infections such as perianal abscesses,conventional anti-infective treatment was ineffective.Both colonoscopies showed multiple ulcers in the rectum and colon.Gene sequencing revealed heterozygous hemizygous mutation in the CYBB gene,and the diagnosis of CGD was confirmed.In addition to infection prevention and symptomatic treatment,early hematopoietic stem cell transplantation was recommended.Most clinical presentations of CGD cases with VEO-IBD reported in the relevant literature were diarrhea,bloody stool and other gastrointestinal symptoms,which were easily diagnosed as VEO-IBD when combined with colonoscopy,but most of the cases had poor treatment effect and prolonged course of disease.Conclusion For infants and young children with recurrent fever,mucopurulent bloody stool and multiple extra-intestinal infections,early endoscopy should be performed and CGD should be considered.Genetic testing is required for a definitive diagnosis.

关 键 词：CYBB基因突变 慢性肉芽肿病 极早发型炎症性肠病 儿童 

分 类 号：R574[医药卫生—消化系统]