Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
复制标题
DOI：
10.1136/jmg.38.11.750
复制
发表时间：
2001-11-01
影响因子：
4
通讯作者：
Miners, AH
中科院分区：
文献类型：
--
作者：
MacDermot, KD;Holmes, A;Miners, AH
Objectives-To determine the natural history of Anderson-Fabry disease（AFD）as a - baseline for efficacy assessment of potential therapeutic drugs. Design-The first large cross-section study of a patient cohort from the AFD clinical and genetic register（UK），maintained for the last 15 years.测量患病率，死亡率，频率的房颤表现，和疾病对患者的生活的影响，从房颤登记册和疾病的具体questionnaire.Results-The中位数累积生存期为50年（n=51），这代表了约20年的寿命减少。77%（n=93）的患者存在神经性疼痛，尽管接受了抗惊厥药和阿片类药物治疗，但平均疼痛评分为5（量表0-10）。只有11%的患者疼痛停止。脑血管并发症发生率为24.2%，肾功能衰竭发生率为30%。严重的AFD表现的发作和进展是高度可变的。使用体重指数（BMI），胃肠道表现与体重的关系是显著的（p=0.01）。78%的听力图证实为高频感音神经性耳聋。五名成年男性没有神经性疼痛和血管角化瘤（相似于5%）。AFD诊断时的中位年龄为21.9岁（n=64）。疾病的影响-在学校，体育和社会活动的出勤率显着影响AFD。只有56.6%（n=46）的患者被雇用：生殖器血管角化瘤，生殖器疼痛，阳痿的性心理影响，以前没有recognized. Conclusion大多数。男性经历多种疾病表现并且神经性疼痛的持续时间是终身的。事实证明，AFD登记册可用于确定该队列的基线疾病参数。
Objectives-To determine the natural history of Anderson-Fabry disease (AFD) as a - baseline for efficacy assessment of potentially therapeutic drugs.Design-The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. Measures-Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed from the AFD register and the disease specific questionnaire.Results-The median cumulative survival was 50 years (n=51); which represents an approximately 20 year reduction of life span. Neuropathic pain was present in 77% (n=93) with mean pain score of 5 (scale 0-10) despite treatment with anticonvulsants and opiates. Pain stopped in only 11%. Cerebrovascular complications developed in 24.2% and renal failure in 30%. The onset and progression of serious AFD manifestations was highly variable. The relationship of gastrointestinal manifestations on weight, using body mass index (BMI), was significant (p=0.01). High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (similar to5%). Median age at diagnosis of AFD was 21.9 years (n=64). Impact of disease-Attendance at school, sports, and social activity were significantly affected by AFD. Only 56.6% (n=46) of patients were employed: Psychosexual effects of genital angiokeratoma, genital pain, and impotence were not previously recognised.Conclusion-The majority of. males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. The AFD register proved, useful for the determination of baseline disease parameters in this cohort.