| 摘要: |
| 【】目的:分析5例规律酶替代治疗法布雷病患者的临床资料,并评估患者酶替代治疗效果。方法:回顾性分析2021年8月至2025年10月在本院接受规律酶替代治疗的5例法布雷病患者临床资料,采用SPSS 25.0软件进行统计学分析,计量资料以均数±标准差表示,治疗前后比较采用配对t检验,P<0.05为差异有统计学意义。临床资料(治疗前):5例男性,首发年龄8.8±3.7岁,确诊年龄25.6±14.1岁,神经痛、少汗(5例),心脏损伤(5例),肾脏损伤(4例),脑卒中(3例),肺功能下降(4例),腹泻(2例)、眼损害(2例)、听力下降(2例)。所有患者α-GalA 酶活性下降(0.28-0.45 μmol·h?1·L?1),Lyso-GL-3水平升高(57.19-357.9ng/ml),并存在GLA基因突变。治疗:阿加糖酶α(每次0.2 mg/kg,隔周一次)4例,阿加糖酶β(1.0 mg/kg,隔周一次)1例,最长使用48个月,最短33个月。随访(33-48个月):无死亡病例,2例无明显脏器损害；1例轻度脑梗死,3例心肌厚度轻度增加,2例蛋白尿明显下降。所有患者Lyso-GL-3水平明显下降,5例生活质量评分明显提高,1例新发脑出血。法布雷病早期诊断及早期治疗极其重要,酶替代治疗能够缓解脏器严重损伤,降低死亡率。 |
| 关键词: 法布雷病 α-半乳糖苷酶A GLA基因 脱乙酰基三己糖酰基鞘脂醇 阿加糖酶α 阿加糖酶β |
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| Follow-up Analysis of Regular Enzyme Replacement Therapy for Fabry Disease |
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baiyunhuan
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Xuzhou Central Hospital
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| Abstract: |
| Objective: To analyze the clinical data of 5 patients with Fabry disease receiving regular enzyme replacement therapy (ERT) and evaluate the treatment efficacy. Methods: Retrospective analysis of clinical data from 5 Fabry disease patients undergoing regular ERT at our hospital between August 2021 and October 2025. Statistical analysis was performed using SPSS 25.0 software. Quantitative data were expressed as mean ± standard deviation. Paired t-tests were used for pre-and post-treatment comparisons, with P<0.05 indicating statistically significant differences. Clinical data (pre-treatment): 5 males, initial onset age 8.8±3.7 years, diagnosis age 25.6±14.1 years, neuropathic pain (5 cases), hypohidrosis (5 cases), cardiac involvement (5 cases), renal impairment (4 cases), stroke (3 cases), decreased lung function (4 cases), diarrhea (2 cases), ocular damage (2 cases), hearing loss (2 cases). All patients showed decreased α-GalA enzyme activity (0.28-0.45 μmol h?1 L?1) and elevated Lyso-glutaminase-3 (Lyso-GL-3) levels (57.19-357.9ng/ml), with confirmed GLA gene mutations. Treatment: Agalsidase α (0.2 mg/kg every two weeks) in 4 cases, Agalsidase β (1.0 mg/kg every two weeks) in 1 case, with treatment duration ranging from 33 to 48 months. Follow-up (33-48 months): No deaths reported. 2 cases showed no significant organ damage; 1 case had mild cerebral infarction, 3 cases demonstrated mild myocardial thickening, and 2 cases exhibited marked reduction in proteinuria. All patients showed a marked decrease in Lyso-GL-3 levels, with five demonstrating significant improvement in quality of life scores and one developing a new cerebral hemorrhage. Early diagnosis and treatment of Fabry disease are crucial, as enzyme replacement therapy can alleviate severe organ damage and reduce mortality. |
| Key words: Fabry disease α-galactosidase A GLA gene Lyso-globotriaosylceramide Agalsidase α Agalsidase β |
