神经纤维瘤病Ⅰ型新致病基因突变1例并文献复习  

A case report of a new pathogenic gene mutation in neurofibromatosis type I and literature review

作　　者：张瑾 亓志玲[2] 王少华[3] 赵玉凤[3] 马旭 吴允刚[3] ZHANG Jin;QI Zhiling;WANG Shaohua;ZHAO Yufeng;MA Xu;WU Yungang(School of Clinical Medicine,Jining Medical University,Jining 272067,Shandong,China;Intensive Care Vnit,Affiliated Hospital of Jining Medical University,Jining 272029,Shandong,China;Department of Otorhinolaryngology&Head and Neck Surgery,Affiliated Hospital of Jining Medical University,Jining 272029,Shandong,China)

机构地区：[1]济宁医学院临床医学院,山东济宁272067 [2]济宁医学院附属医院重症医学科,山东济宁272029 [3]济宁医学院附属医院耳鼻咽喉头颈外科,山东济宁272029

出　　处：《山东大学耳鼻喉眼学报》2024年第2期73-78,共6页Journal of Otolaryngology and Ophthalmology of Shandong University

基　　金：济宁市科技计划重点研发计划项目(2021YXNS028,2021YXNS048,2021YXNS052);贺林院士新医学临床转化工作站科研基金项目(JYHL2022FMS11);济宁医学院附属医院主诊医师团队专项研究计划项目(ZZTD-2022-007)

摘　　要：目的通过总结1例神经纤维瘤病Ⅰ型(neurofibromatosis typeⅠ,NFⅠ)新致病基因突变患者的临床资料,提高对NFI的认识及诊疗效果。方法回顾性分析1例15岁NFⅠ患者,并结合相关文献进行总结。结果本文NFⅠ患者有双侧耳部肿物,全身散在大小不等的皮肤斑块,双侧颌面部、颈部、颏下软组织肿胀,脊柱侧弯,其父亲有类似病史。基因检测发现1个新的突变位点。患者行耳部肿物切除术后恢复良好。结论临床上对NFⅠ患者,应追溯NFⅠ患者其家族史,并进行详细问诊及系统体格检查,检查患者有无合并恶性肿瘤,同时不要忽视患者的心理健康。尽管NFⅠ没有治愈的方法,但对于有明显症状、影响患者生活以及恶变的病例,可建议手术治疗。对于NFⅠ患者,应定期随访复查,关心心理健康,对其家庭进行遗传咨询和教育。Objective To summarize the clinical data of a patient with neurofibromatosis typeⅠ(NFⅠ)and a new pathogenic gene mutation,so as to improve the understanding of the diagnosis and treatment of NFⅠ.Methods One case of a 15-year-old patient with NFⅠwas analyzed retrospectively and the relevant literature was summarized.Results NFⅠpatient had bilateral ear swelling,scattered skin plaques of variable size throughout the body,soft tissue swelling in the bilateral maxillofacial,cervical,and subchin areas,and scoliosis,his father had a similar history.Genetic testing revealed one new mutant locus.The patient recovered well after ear mass resection.Conclusion For NFⅠpatients,it is necessary to trace their family history,conduct detailed consultation and general physical examination and check whether patients are complicated with malignant tumors.At the same time,the mental health of patients should not be ignored.Although there is no cure for NFⅠ,surgery may be recommended for cases with significant symptoms that affect the patient's life as well as for malignant changes.For NFⅠpatients,we should follow up regularly,care about their mental health,and conduct genetic counseling and education.

关 键 词：Ⅰ型神经纤维瘤病 耳郭 基因检测 基因突变 青少年 

分 类 号：R739.6[医药卫生—肿瘤]