重型先天性中性粒细胞缺乏症合并克罗恩病:1例报道并文献复习  

Severe congenital neutropenia complicated with Crohn's disease:one case report and literature review

作　　者：王丽[1] 黄道连[2] 王德刚[3] 龙晓玲 鞠文东[1] WANG Li;HUANG Daolian;WANG Degang;LONG Xiaoling;JU Wendong(Department of Oncology and Hematology,Boai Hospital of Zhongshan,Affiliated to Southern Medical University,Zhongshan 528403,China;Department of Laboratory,Boai Hospital of Zhongshan,Affiliated to Southern Medical University,Zhongshan 528403,China;Department of Prenatal Diagnosis Center,Boai Hospital of Zhongshan,Affiliated to Southern Medical University,Zhongshan 528403,China;Department of Pediatrics,Boai Hospital of Zhongshan,Affiliated to Southern Medical University,Zhongshan 528403,China)

机构地区：[1]南方医科大学附属中山市博爱医院肿瘤血液科,广东中山528403 [2]南方医科大学附属中山市博爱医院检验科,广东中山528403 [3]南方医科大学附属中山市博爱医院产前诊断中心,广东中山528403 [4]南方医科大学附属中山市博爱医院儿科,广东中山528403

出　　处：《胃肠病学和肝病学杂志》2022年第6期709-712,共4页Chinese Journal of Gastroenterology and Hepatology

摘　　要：重型先天性中性粒细胞缺乏症(severe congenital neutropenia,SCN)为罕见疾病,本文报道1例出生后反复发生严重感染、结肠溃疡合并出血、重度生长发育迟缓、脊柱后凸畸形伴骨质疏松、佝偻病等多种表现的SCN合并克罗恩病、佝偻病,直至18岁明确诊断。本文对其临床、基因特征及诊疗过程进行分析,并结合文献进行讨论。希望能对临床早期诊断提供参考,提高患者生存率及生活质量。Severe congential neutropenia(SCN)is a rare disease.This article reported a patient presenting with recurrent infections,intestinal ulcers with bleeding,severe growth retardation,kyphosis and osteoporosis,rickets after birth,the diagnosis of SCN with Crohn's disease and rickets was diagnosed until 18 years old.The clinical manifestations,gene mutation characteristics,diagnosis and treatment of the patient with SCN were analyzed and discussed combination with literature retrospectively.It is hoped that it can provide reference for early diagnosis and treatment,and improve patient survival and quality of life.

关 键 词：重型先天性中性粒细胞缺乏症 中性粒细胞弹性蛋白酶 克罗恩病 反复感染 

分 类 号：R574.62[医药卫生—消化系统]