摘要
目的总结法布里病患者神经痛特征,探讨性别及α-半乳糖苷酶A(GLA)基因突变类型对疼痛的影响。方法收集2001年1月至2020年4月北京大学第一医院神经内科确诊的法布里病患者,对其神经痛情况进行问卷调查和简明疼痛量表评估,总结患者疼痛特征,比较不同性别组患者之间以及GLA基因截短突变和非截短突变组患者之间的疼痛差异。结果共纳入93例法布里病患者,神经痛发生率为91.4%(85/93),疼痛平均起始年龄为9岁,平均缓解年龄为20岁,缓解率22.8%(18/79),肢端疼痛[96.5%(82/85)]是最常见的形式。男性患者疼痛缓解率[17.5%(11/63)]低于女性(7/16,χ^(2)=5.01,P=0.025)。简明疼痛量表评估结果显示男性24 h内疼痛最剧烈程度高于女性[男性(4.16±3.20)分,女性(2.07±2.02)分,t=3.03,P=0.004],且疼痛对男性日常生活[男性4(7)分,女性0(4)分,Z=-2.33,P=0.020)、行走能力[男性5(8)分,女性0(2)分,Z=-2.87,P=0.004]、日常工作[男性5(8)分,女性0(2)分,Z=-3.10,P=0.002]、与他人关系[男性2(6)分,女性0(3)分,Z=-2.67,P=0.008]及生活兴趣[男性4(8)分,女性0(3)分,Z=-2.81,P=0.005]的影响也高于女性。GLA基因截短突变组仅在目前疼痛程度[1(2)分]上高于非截短突变组[0(0)分,Z=-2.89,P=0.003]。结论中国法布里病患者神经痛发生率高、起病早,男性患者疼痛较女性更为剧烈,且对生活影响更大,而GLA基因突变类型对疼痛影响较小。
Objective To summarize the characteristics of neuralgia in Fabry disease and explore the effects of genders and alpha-galactosidase A(GLA)gene mutation types on neuralgia.Methods Questionnaires and Brief Pain Inventory evaluations were conducted on the recruited patients diagnosed as Fabry disease in Department of Neurology,Peking University First Hospital from January 2001 to April 2020.The characteristics of the neuralgia were summarized,and the portrait of neuralgia between male and female patients,and the patient groups carrying truncated mutations and non-truncated mutations of GLA gene was compared.Results A total of 93 patients with Fabry disease were enrolled.The incidence of neuralgia was 91.4%(85/93),and the average onset age of pain was 9 years.The average remission age was 20 years with the remission incidence of 22.8%(18/79).Pain attack on extremities[96.5%(82/85)]was the most common form.The neuralgia relieving rate of male patients[17.5%(11/63)]was lower than that of females(7/16,χ^(2)=5.01,P=0.025).Brief Pain Inventory scores showed that the degree of most severe pain attack within 24 hours of male patients(4.16±3.20)was higher than that of females(2.07±2.02,t=3.03,P=0.004),and the impact of pain on daily life[male 4(7)vs female 0(4),Z=-2.33,P=0.020],walking ability[male 5(8)vs female 0(2),Z=-2.87,P=0.004],daily work[male 5(8)vs female 0(2),Z=-3.10,P=0.002],relationship[male 2(6)vs female 0(3),Z=-2.67,P=0.008]and interests[male 4(8)vs female 0(3),Z=-2.81,P=0.005]of male patients was also higher than female patients.The truncated mutation group[1(2)]only showed higher score on the current pain level than the non-truncated mutation group[0(0),Z=-2.89,P=0.003].Conclusions The neuralgia in Chinese patients with Fabry disease showed high incidence and early onset.Male patients presented more severe pain than female which led to a greater impact on life,while the type of GLA gene mutation had less impact on neuralgia.
作者
苗源峰
赵亚雯
刘靖
李凡
王朝霞
袁云
张巍
Miao Yuanfeng;Zhao Yawen;Liu Jing;Li Fan;Wang Zhaoxia;Yuan Yun;Zhang Wei(Department of Neurology,Peking University First Hospital,Beijing 100034,China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2022年第1期15-20,共6页
Chinese Journal of Neurology
基金
国家自然科学基金(8110840)
北大医学交叉研究种子基金(BMU2021MX016)。
