以炎症性肠病为临床表型的2型X连锁淋巴组织细胞异常增生症一例报道并文献复习  

X-linked lymphoproliferative syndrome type 2 with inflammatory bowel disease as its clinical phenotype:one case report and literature review

作　　者：贺程程 李和俊 周佩蓉 张文星 李瑾 李明松 He Chengcheng;Li Hejun;Zhou Peirong;Zhang Wenxing;Li Jin;Li Mingsong(Department of Gastroenterology,Inflammatory Bowel Diseases Research Center,the Third Affiliated Hospital,Guangzhou Medical University,Guangzhou 510150,China)

机构地区：[1]广州医科大学附属第三医院消化内科,炎症性肠病中心,广州510150

出　　处：《中华炎性肠病杂志（中英文）》2022年第3期235-239,共5页Chinese Journal of Inflammatory Bowel Diseases

摘　　要：目的总结2型X连锁淋巴组织细胞异常增生症(XLP-2),特别是以炎症性肠病(IBD)为临床表型的病例的临床特征。方法回顾性分析2021年5月广州医科大学附属第三医院消化内科收治的1例以IBD为首发表型的XLP-2患者的临床特征及诊治过程,并以"X-linked lymphoproliferative syndrome type 2"、"X-linked inhibitor of apoptosis protein deficiency"、"hemophagocytic syndrome"、"X连锁淋巴组织细胞异常增生症"、"X连锁凋亡抑制因子缺陷"、"噬血细胞综合征"为检索词,分别在PubMed、中国知网、万方数据库检索2006年1月至2021年10月的文献,纳入诊断为XLP-2的病例进行复习总结。结果纳入90篇文献共215例患者。男性207例,女性8例;诊断年龄0~14岁的患者占85.1%(183/215)。临床表型主要包括噬血细胞综合征119例(55.3%)、脾大58例(27.0%)、IBD56例(26.0%)。以IBD为临床表型的患者共56例。男性52例,女性4例;发病年龄(范围)6.4(0~31.0)岁,IBD诊断年龄(范围)9.1(0~31.0)岁,XLP-2诊断年龄(范围)10.8(0~41.0)岁。克罗恩病49例,溃疡性结肠炎1例,未确定分型6例。X连锁凋亡抑制因子(XIAP)基因突变类型中,无义突变26例,错义突变22例,缺失突变8例。治疗方面,采用造血干细胞移植25例(44.6%),糖皮质激素8例(14.3%),免疫抑制剂11例(19.6%),生物制剂27例(48.2%),使用2种及以上生物制剂共18例(32.1%)。随访35例,时间(范围)8.46(0.11~34.00)年,存活32例,死亡3例。结论XLP-2是一种X染色体隐性遗传病,多见于男性和儿童,IBD为常见的表型之一。以IBD为表型的XLP-2患者大多接受多种药物治疗,具有难治性特点且易发生诊断延迟,早期基因检测对XIAP基因缺陷疾病的鉴别诊断及早期治疗具有重要意义。Objective To summarize the clinical features of X-linked lymphoproliferative syndrome type 2(XLP-2),especially the cases with inflammatory bowel disease(IBD)as the clinical phenotype.Methods The clinical features and the course of diagnosis and treatment of a XLP-2 patient with IBD as the primary phenotype at the Department of Gastroenterology of the Third Affiliated Hospital of Guangzhou Medical University in May 2021 were analyzed retrospectively.Key words of"X-linked lymphoproliferative syndrome type 2","X-linked inhibitor of apoptosis protein deficiency","hemophagocytic syndrome"were used to retrieve associated literatures in PubMed,CNKI and Wanfang database between January 2006 and October 2021.Associated literatures including the patients diagnosed as the XLP-2 were summarized and reviewed.Results A total of 90 articles and 215 patients were included.Among them,207 were males and 8 were females.There were 183(85.1%)patients with age of diagnosis less than 14 years old.Hemophagocytic syndrome(55.3%,119/215),splenomegaly(27.0%,58/215)and IBD(26.0%,56/215)were the common clinical phenotypes.There were 56 patients with IBD as the clinical phenotype,including 52 males and 4 females.The average age of onset was 6.4(0,31.0)years old,the average age at diagnosis of IBD was 9.1(0,31.0)years old and the average age at diagnosis of XLP-2 was 10.8(0,41.0)years old.There were 49 of Crohn's disease,1 of ulcerative colitis and 6 of IBD unclassified.In the 56 patients with mutation of X-linked inhibitor of apoptosis protein(XIAP),nonsense mutations occurred in 26,missense mutations in 22 and deletion mutations in 8.In terms of treatment,25 patients(44.6%)received hematopoietic stem cell transplantation,8(14.3%)received hormones,11(19.6%)received immunosuppressants,27(48.2%)received biologics,and 18(32.1%)received 2 or more two biologics.Thirty-five patients were followed up for 8.46(0.11,34.00)years,32 survived and 3 died.Conclusions XLP-2 is an X chromosome recessive genetic disease,which is common in men and children.IBD

关 键 词：2型X连锁淋巴组织细胞异常增生症 基因 X连锁凋亡抑制因子 炎症性肠病 基因检测 

分 类 号：R551.2[医药卫生—血液循环系统疾病] R574[医药卫生—内科学]