CAJ | 학술논문

目的分析2型神经纤维瘤病(NF2)的临床特征,明确临床各因素与预后存在的相关性.方法回顾性分析了175例临床确诊为NF2患者的临床资料、影像学表现及预后.男92例,女83例,家族遗传性患者27例,散发患者148例,平均年龄29.5岁；随访期为1～255个月,生存154例,死亡21例,中位生存时间为(208.4±10.6)个月(95％ CI,187.6～229.1).Kaplan-Meier生存分析法分析各因素对生存时间的影响.结果患者首次出现症状年龄≤19岁和＞19岁的两组的生存率存在明显差异(P =0.006),有或无脊髓肿瘤的生存率存在明显差异(P=0.009)；Cox回归模型分析结果伴随脊髓肿瘤为NF2患者预后的影响因素(P=0.048).结论 NF2临床表型多样且不同个体之间差异大,伴随脊髓肿瘤是患者预后不佳的重要因素.
목적 분석2형신경섬유류병(NF2)적림상특정,명학림상각인소여예후존재적상관성.방법 회고성분석료175례림상학진위NF2환자적림상자료、영상학표현급예후.남92례,녀83례,가족유전성환자27례,산발환자148례,평균년령29.5세；수방기위1～255개월,생존154례,사망21례,중위생존시간위(208.4±10.6)개월(95％ CI,187.6～229.1).Kaplan-Meier생존분석법분석각인소대생존시간적영향.결과 환자수차출현증상년령≤19세화＞19세적량조적생존솔존재명현차이(P =0.006),유혹무척수종류적생존솔존재명현차이(P=0.009)；Cox회귀모형분석결과반수척수종류위NF2환자예후적영향인소(P=0.048).결론 NF2림상표형다양차불동개체지간차이대,반수척수종류시환자예후불가적중요인소.
Objective To analyse clinical characteristics of neurofibromatosis type 2 (NF2) and evaluate clinical predictors of the risk of mortality in patients of NF2.Methods A total of 175 cases of NF2 patients,confirmed with Manchester criteria for clinical diagnosis of NF2,were retrospectively studied for the clinical manifestations and imaging.Average age of this group was 29.5 year-old,including 92 males and 83 females.27 cases were inherited cases and 148 were sporadic cases.During the follow-up from 1-255 months,154 NF2 cases still survive while 21 cases died.The median survival time was 208.4 ± 10.6 months (95％ CI,187.6,229.1).The Kaplan-Meier survival analysis were performed for the survive time,examined with the covariates of age at onset of symptoms,age at diagnosis,sex,inheritance (new mutation or inherited case),presence each type of NF2 lesions (intracranial meningiomas,spinal tumors,peripheral neuropathy and ocular disorders).Results Group of aged at onset of symptoms groups ＞ 19 years was significantly higher survival rate than group of aged ≤ 19 years (P =0.006) ; Patients without spinal tumors had significantly higher survival rate than patients with spinal tumors (P =0.009).Cox proportional hazards regression analysis indicated that presence with spinal tumors was the influencing factors for prognosis of NF2 patients.Conclusions NF2 is a clinically hetereogeneous disease with different phenotypes,presence with spinal tumors was associated with poor survival.