[Clinical and genotypic characteristics of infantile inflammatory bowel disease].

Objective: To analyze the clinical and genotypic characteristics of infantile inflammatory bowel disease (IBD). Methods: The age of onset, family history, clinical manifestations, and treatment effect were retrospectively analyzed in 39 infants (male 23 cases, female 16 cases) with IBD who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from January 2007 to December 2017. Next generation sequencing (NGS) based on target gene panel was used for gene analysis in 17 patients. Results: The median age of onset was 0.5 (0.5, 1.0) month. The most common clinical symptoms included diarrhea (39, 100%), malnutrition (38, 97%), hematochezia (34, 87%), fever (25, 64%), and perianal diseases (24, 61%). Four children had associated family history. Among the 17 patients whose gene was analyzed, 10 were found to have the pathogenic gene variation, within whom 7 had interleukin-10 receptor α subunit (IL-10RA) mutation, 2 had CYBB heterozygous mutation, 1 had interleukin-10 receptor β subunit (IL-10RB) mutation. The therapeutic medicine included mesalazine, steroids, and thalidomide. Eighteen children (46%) reached clinical remission (10 cases) or partial remission (8 cases). Conclusions: The incidence of single gene mutation in infants with IBD is high, with IL-10RA mutation as the most common. Refractory diarrhea and malnutrition may indicate infantile IBD.目的： 分析婴幼儿炎症性肠病（IBD）的临床及基因型特点。 方法： 回顾性分析2007年1月至2017年12月首都儿科研究所附属儿童医院消化内科确诊的39例婴幼儿期发病的IBD患儿（男23例、女16例）的临床资料，分析其发病年龄、家族史、临床表现、药物疗效，并对17例患儿采用目标基因捕获高通量测序方法行基因测序分析。 结果： 39例婴幼儿IBD患儿发病年龄为0.5（0.5，1.0）月龄，常见症状为腹泻（39例，100%）、营养不良（38例，97%）、便血（34例，87%）、发热（25例，64%）、肛周病变（24例，61%）。4例患儿有家族史。17例患儿中有10例患儿为单基因突变，其中7例患儿为IL-10RA基因突变，2例患儿为CYBB半合子突变，1例患儿为IL-10RB突变。主要治疗的药物为美沙拉嗪、激素或沙利度胺，治疗后18例（46%）达临床缓解或部分缓解（10例临床缓解、8例部分缓解）。 结论： 婴幼儿IBD单基因突变的比例高，最常见的基因突变为IL-10RA突变。对于婴幼儿期即出现反复腹泻、营养不良的患儿，应注意IBD的可能。.