山东大学耳鼻喉眼学报 ›› 2024, Vol. 38 ›› Issue (2): 73-78.doi: 10.6040/j.issn.1673-3770.0.2023.030
张瑾1,亓志玲2,王少华3,赵玉凤3,马旭1,吴允刚3
ZHANG Jin1, QI Zhiling2, WANG Shaohua3, ZHAO Yufeng3, MA Xu1, WU Yungang3
摘要: 目的 通过总结1例神经纤维瘤病Ⅰ型(neurofibromatosis type Ⅰ, 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。
中图分类号:
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