Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children Hospital & Institute of Child Health, Lahore.
Department of Paediatric Medicine, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
J Pak Med Assoc. 2021 Oct;71(10):2350-2354. doi: 10.47391/JPMA.05-725.
To explore the spectrum of presentation, underlying monogenetic defects and outcome in very early onset inflammatory bowel disease (VEO-IBD).
The prospective, observational study was conducted at the Children's Hospital, Lahore, Pakistan, from January 2017 to December 2018, and comprised children developing features of inflammatory bowel disease aged <6 years. Data included demography, clinical presentation, diagnostic tools and outcome. Data was analysed using SPSS 21.
Of the 60 children with relevant symptoms, 26(43.3%) were diagnosed as having very early onset inflammatory bowel disease. Of them, 13(50%) had underlying monogenic defect, and 16(61.5%) had ulcerative colitis. There were 22(84.6%) males with median age of 1.5(11) months in monogenic inflammatory bowel disease versus 24(43) months for non-monogenic inflammatory bowel disease (p<0.05). In the monogenic group, isolated rectal bleeding was the major presentation 13(100%) versus non-monogenic who presented mainly with failure to thrive 13(100%). Upper and lower endoscopies with histopathology had good diagnostic yield and inflammatory infiltrates on the biopsied tissues were the major findings. Mutations detected among the subjects were XIAP, PRKDC, PIK3CD, RAG-1, LRBA, DOCK8, TTC7, MEFV and EPCAM. Mortality was significantly higher in the monogenic group 7(54%) than in the non-monogenic group 2(15%) (p<0.05).
Very early onset inflammatory bowel disease should be suspected when conventional management fails to rectify common disease mimickers. Testing for underlying immunological defect and genetic mutation would be helpful for managing these rare disorders.
探讨极早发性炎症性肠病（VEO-IBD）的临床表现、潜在单基因缺陷及结局。
该前瞻性观察性研究于 2017 年 1 月至 2018 年 12 月在巴基斯坦拉合尔的儿童医院进行，纳入年龄<6 岁、出现炎症性肠病特征的患儿。数据包括人口统计学、临床表现、诊断工具和结局。使用 SPSS 21 进行数据分析。
在有相关症状的 60 名儿童中，26 名（43.3%）被诊断为极早发性炎症性肠病。其中 13 名（50%）存在潜在单基因缺陷，16 名（61.5%）患有溃疡性结肠炎。22 名（84.6%）男性中位年龄为 1.5（11）个月，而单基因炎症性肠病组为 24（43）个月（p<0.05）。在单基因组中，孤立性直肠出血是主要表现 13 例（100%），而非单基因组主要表现为生长发育迟缓 13 例（100%）。上、下消化道内镜检查结合组织病理学检查具有良好的诊断效果，活检组织的主要发现为炎症浸润。在研究对象中检测到的突变有 XIAP、PRKDC、PIK3CD、RAG-1、LRBA、DOCK8、TTC7、MEFV 和 EPCAM。单基因组死亡率明显高于非单基因组 7（54%）比 2（15%）（p<0.05）。
当常规治疗未能纠正常见疾病的类似物时，应怀疑极早发性炎症性肠病。检测潜在的免疫缺陷和基因突变有助于管理这些罕见疾病。
