关键词: 法布里病, 基因变异, 酶替代治疗, 不良反应

Abstract: Ｏｂｊｅｃｔｉｖｅ：To analyze the clinical features, genetic test, short-time efficacy and adverse reactions of enzyme replacement therapy (ERT) in Chinese patients with Fabry disease (FD).
Ｍｅｔｈｏｄｏｌｏｇｙ：A retrospective analysis of the clinical manifestations, genetic variations, family screening, treatments and adverse reactions was conducted in eight patients with Fabry disease, who were admitted to Sichuan Provincial Peoples Hospital from Jan 2022 to June 2023. The dosage of agalsidase alpha was 0.2mg／kg by intravenous pump once every 2 weeks.
Ｒｅｓｕｌｔｓ：Eight patients with median age of 26 years old (22～47years old) were diagnosed based on clinical features, family history, α-galactosidase A (α-Gal A) activity, genetic analysis results and kidney biopsy. Patients had acroparaesthesia, cutaneous angiokeratoma,with or without abnormal urinalysis, renal failure, hypertension. Seven missense mutations of the GLA gene were identified,One case had splicing mutation. There was no serious adverse reaction during agalsidase alpha infusion in 8 patients. After 2～11 month of ERT, the plasma globotriaosylsphingosine (lyso-GL-3) levels were significantly reduced in 7 patients(P<0.05), proteinuria was significantly decreased in 4 patients, and the acroparaesthesia symptom was significantly improved in 8 patients.
Ｃｏｎｃｌｕｓｉｏｎ：The clinical manifestations of Fabry disease are varied. No severe adverse events occurred in patients treated with short-term ERT. Plasma lyso-GL-3 levels were decreased and the clinical symptoms were improved significantly after ERT. The clinical benefit needs longer observation and follow-up.

Key words: Fabry disease, gene variation, enzyme replacement therapy, adverse events