LIG4基因突变导致慢性腹泻1例报告并文献复习  

Chronic diarrhea caused by mutation of LIG4 gene: a case report and literature review

作　　者：钟舒文[1] 蒋丽蓉[1] 邓朝晖[1] 郁婷婷[2] 王剑[2] ZHONG Shuwen;JIANG Lirong;DENG Chaohui;YU Tingting;Wang Jian(Department of Gastroenterology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China;Molecular diagnostic laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心消化内科,上海200127 [2]上海交通大学医学院附属上海儿童医学中心分子诊断中心,上海200127

出　　处：《临床儿科杂志》2019年第4期308-311,320,共5页Journal of Clinical Pediatrics

摘　　要：目的探讨LIG4综合征的发病机制和诊断。方法回顾分析1例LIG4综合征患儿的临床资料及基因检测结果。结果患儿,男,19个月,慢性腹泻病伴病毒、细菌和真菌混合感染;小头外貌,发育落后,营养不良;血常规示白细胞计数,尤其中性粒细胞和淋巴细胞数显著减少,T细胞和B细胞减少,考虑为免疫缺陷病。二代测序发现患儿存在LIG4致病基因的复合杂合变异,即错义突变c. 833 G>T;p.Arg 278 Leu以及缺失突变c. 1271_1275 del, p.Lys 424 Argfs*20。结论慢性腹泻合并多重感染应警惕免疫缺陷病,基因检测有助确诊。Objective To explore the pathogenesis and diagnosis of LIG4 syndrome. MethodThe clinical data and gene test results of LIG4 syndrome in a child were retrospectively analyzed. ResultsA 19-month-old boy suffered from chronic diarrhea, accompanied with mixed infection of virus, bacteria and fungi. He had small head appearance, developmental retardation and malnutrition. The blood routine showed a significant decrease in white blood cell count, especially neutrophils and lymphocytes, and a decrease in T cells and B cells, and immunodeficiency disease was considered. Second-generation sequencing revealed that there were complex heterozygous mutations in LIG4 pathogenic gene, namely missense mutation c.833G>T, p.Arg278Leu and deletion mutation c.1271_1275del, p.Lys 424Argfs*20. ConclusionImmunodeficiency diseases should be considered in the patients with chronic diarrhea accompanied with multiple infections. Gene testing helps confirm the diagnosis.

关 键 词：慢性腹泻 LIG4综合征 免疫缺陷 

分 类 号：R725.9[医药卫生—儿科]