Clinical features and treatment effect of enzyme replacement therapy in patients with Fabry disease / 中华肾脏病杂志

ABSTRACT

Objective:To analyze the clinical features, efficacy and adverse reactions of enzyme replacement therapy (ERT) in patients with Fabry disease (FD).Methods:The clinical data of FD patients in Shandong Provincial Hospital Affiliated to Shandong First Medical University from June 2020 to September 2021 were collected and the clinical manifestations, laboratory examinations, gene mutations, and efficacy and adverse reactions of ERT were retrospectively analyzed.Results:Sixteen patients with FD were enrolled in this study, including 12 typical cases and 4 late-onset cases, with varied clinical manifestations. Compared with late-onset patients, typical patients had younger age of onset ( P=0.001), lower activity of plasma alpha-galactosidase A ( P=0.016) and higher globotriaosylsphingosine (lyso-GL-3, P=0.030). The typical patients [(13.50±10.08) years] and late-onset patients [(10.75±7.27) years] both had long delayed time of diagnosis. In 7 patients who underwent regular 6 ERT, lyso-GL-3 was significantly lower than before ( P=0.018); after 6 treatments, the pain of 5 patients was relieved than before. Three patients with irregular ERT had aggravated symptoms, and 1 case had stroke recurrence during regular treatment. No serious adverse reaction occurred with the use of agalsidase β and α. Conclusions:ERT can effectively reduce the level of plasma lyso-GL-3 in patients with FD and relieve symptoms, and has good safety. But the efficacy of ERT is dose-dependent, and clinical benefits require long-term observation and follow-up. Patients treated with ERT should have good compliance and can receive long-term regular treatment.