Wang F P, Ma X, Zhu D, Gong Y Z, Ning H J, Zhong X M
Department of Gastroenterology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China.
Zhonghua Er Ke Za Zhi. 2018 Oct 2;56(10):753-758. doi: 10.3760/cma.j.issn.0578-1310.2018.10.007.
To analyze the clinical features and interleukin-10 receptor gene mutations in six infants with very early onset inflammatory bowel disease (VEO-IBD). Four girls and two boys with VEO-IBD admitted to Children's Hospital Affiliated to Capital Institute of Pediatrics from June 2016 to September 2017 were reviewed. The clinical data including general condition, clinical symptoms, laboratory tests, and colonoscopy and pathological results were collected and analyzed. Interleukin-10 receptor α subunit (IL-10RA) gene was examined in all patients. Persistent diarrhea and fever were the most common symptoms and were found within 1 month after birth in all 6 patients. Anemia, oral ulcer or perianal lesions and growth retardation were common concomitant symptoms. All patients had colonoscopy examination and the results showed multiple ulcers affecting the colon with biopsies revealing acute and chronic inflammation. Three patients were found to have cryptitis and crypt abscesses. Gene sequencing revealed IL-10RA gene mutations in all six patients, including 3 cases with homozygous mutations (one with c.537G>A and two with c.301C>T) and 3 heterozygous mutations (paternal c.301C>T in all cases; maternal c.299T>G, c.350G>A and c.537G>A, respectively) . After conventional treatment, one got clinical and pathological improvement according to colonoscopy, three improved clinically, one worsened and died, and one died of septic shock secondary to intestinal perforation. VEO-IBD is associated with IL-10RA mutation, usually with severe intestinal symptoms and significant extra-intestinal symptoms, as well as varied responses to conventional treatment. In our study, c.301C>T and c.537G>A are the most common mutations.
分析6例极早发型炎症性肠病（VEO-IBD）婴儿的临床特征及白细胞介素-10受体基因突变情况。回顾2016年6月至2017年9月在首都儿科研究所附属儿童医院收治的4例VEO-IBD女童和2例VEO-IBD男童。收集并分析包括一般情况、临床症状、实验室检查、结肠镜检查及病理结果在内的临床资料。对所有患者检测白细胞介素-10受体α亚基（IL-10RA）基因。持续性腹泻和发热是最常见症状，所有6例患者均在出生后1个月内出现。贫血、口腔溃疡或肛周病变以及生长发育迟缓是常见伴随症状。所有患者均接受结肠镜检查，结果显示结肠多处溃疡，活检显示急性和慢性炎症。3例患者发现隐窝炎和隐窝脓肿。基因测序显示所有6例患者均存在IL-10RA基因突变，其中3例为纯合突变（1例为c.537G>A，2例为c.301C>T），3例为杂合突变（所有病例父系均为c.301C>T；母系分别为c.299T>G、c.350G>A和c.537G>A）。经传统治疗后，1例结肠镜检查显示临床和病理改善，3例临床改善，1例病情恶化死亡，1例死于肠穿孔继发的感染性休克。VEO-IBD与IL-10RA突变相关，通常伴有严重肠道症状和明显肠道外症状，以及对传统治疗的不同反应。在我们的研究中，c.301C>T和c.537G>A是最常见的突变。
