误诊为“先天性巨结肠”的ATCG2基因突变相关内脏肌病1例  

A case of visceral myopathy with ATCG2 gene mutation misdiagnosed as Hirschsprung disease

作　　者：刘育豪 张悦怡 柏小寅 陈洋 周炜洵 李晓青 LIU Yuhao;ZHANG Yueyi;BAI Xiaoyin;CHEN Yang;ZHOU Weixun;LI Xiaoqing(Deptartment of Internal Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China;Department of Gastroenterology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China;Department of Pathology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院、北京协和医学院、北京协和医院内科,北京100730 [2]中国医学科学院、北京协和医学院、北京协和医院消化内科,北京100730 [3]中国医学科学院、北京协和医学院、北京协和医院病理科,北京100730

出　　处：《基础医学与临床》2024年第6期873-876,共4页Basic and Clinical Medicine

基　　金：中央高水平医院临床科研业务费(2022-PUMCH-A-175)。

摘　　要：目的探讨一例内脏肌病患者的诊断、鉴别诊断和并发症的治疗。方法详细收集患者病史、体格检查和辅助检查等临床资料,复核手术病理,送检全外显子基因测序,并通过一代测序完善突变位点的家系验证。结果患者为青年女性,幼儿期起病,临床表现为反复不全肠梗阻,被诊断为“先天性巨结肠”,多次行胃肠切除手术。术后肠梗阻症状可短暂缓解。但末次手术后逐渐出现严重腹泻、黏液血便及营养不良。评估考虑患者慢性假性肠梗阻继发小肠细菌过度生长及肠道机会性感染,予抗感染、肠内要素饮食等对症治疗后好转。进一步完善病理会诊及全外显子基因测序,明确诊断为ATCG2 R148L基因突变相关内脏肌病。结论对起病早、常规治疗反应差的慢性假性肠梗阻患者可完善基因检测。遗传性内脏肌病患者易合并肠道机会性感染,应关注并发症的防治,避免不必要的手术。Objective To discuss the clinical features,differential diagnosis and complication treatment of a patient with genetic visceral myopathy.Methods Medical history,physical examination and laboratory results of the patient were collected in detail.The pathology of previous surgery was reviewed.The patient′s peripheral blood DNA was extracted and submitted for whole-exome sequencing.Subsequent Sanger sequencing was used to complete the pedigree verification of the mutation site.Results The patient was a young female presented with repeated incomplete intestinal obstruction since early childhood.She used to be misdiagnosed as Hirschsprung′s disease for a long period and underwent multiple gastrointestinal segment resections.Her intestinal obstruction symptoms were temporarily relieved by surgeries,but severe diarrhea,mucus and bloody stools and malnutrition gradually occurred after the last operation.The patient had bacterial overgrowth in small intestinal tract and followed by intestinal opportunistic infections secondary to chronic intestinal pseudo-obstruction.The symptoms improved after anti-infection and enteral element diet treatment.Further pathological consultation and whole-exome gene sequencing confirmed the diagnosis of visceral myopathy related to ATCG2 R148L mutation.Conclusions Patients with early onset of chronic intestinal pseudo-obstruction and have poor response to conventional treatment are recommended to perform genetic test.The patients with hereditary visceral myopathy are susceptible to opportunistic intestinal infection.Attentions should also be paid to the prevention and treatment of complications to avoid unnecessary surgery.

关 键 词：慢性假性肠梗阻 肠道机会性感染 内脏肌病 先天性巨结肠 

分 类 号：R574.2[医药卫生—消化系统]