Analysis of effect of enzyme replacement therapy in 18 patients of Pompe disease
Objective To analyze the effect of enzyme replacement therapy(ERT)in 18 patients of Pompe disease.Methods Clinical data,laboratory tests,acid alpha-glucosidase(GAA)enzyme activity,GAA gene,outcome and follow-up of ERT in 18 cases of infantile and late-onset Pompe disease admitted to the First Affiliated Hospital of Sun Yat-sen University from October 2020 to May 2023 were retrospectively collected and analyzed.Results Among the 18 patients with Pompe disease,9 are males,and 9 are females;4 had infantile onset,5 had late-onset in children,and 9 had late-onset in adults;age of onset ranged from 4 months to 43 years;ERT was received from 1 to 61 times,with only 1 adverse reaction during infusion.Among the 4 infantile onset patients after standardized ERT,2 had stable motor and respiratory function,1 had difficulty removing from vetilator,and 1 died.Most of the muscle strength of extremities of late-onset patients were difficult to reverse,and creatine kinase gradually decreased or remained stable,while subjective symptoms,exercise endurance,and respiratory function were significantly improved.ERT was most effective in the early stages and the disease remained stable for 1 to 2 years after treatment.Conclusions ERT is safe and effective,which can help delay disease progression and improve the quality of life of patients.Early standard treatment is beneficial for both infantile-and late-onset patients.
Glycogen storage disease type ⅡEnzyme replacement therapyInfantile-onsetLate-onsetFollow-up studies
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