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Published: 2021-06-09
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DOI: https://doi.org/10.52852/tcncyh.v140i4.126
Issue
Vol. 140 No. 4 (2021)
Section
Các bài báo
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Khánh, N. N. ., & Dũng, V. C. . (2021). Outcomes of infantile onset pompe disease patients at the national childrent’s hospital. Journal of Medical Research, 140(4), 20-25. https://doi.org/10.52852/tcncyh.v140i4.126

Outcomes of infantile onset pompe disease patients at the national childrent’s hospital

Nguyễn Ngọc Khánh, Vũ Chí Dũng

Main Article Content

Abstract

Pompe disease is a rare inherited disease result from GAA gene mutations. Enzyme replacement therapy (ERT) has been effective in Infant Onset Pompe Disease (IOPD). To evaluate outcomes of ERT in IOPD patients, we performed a case series study on 31 IOPD patients from 2015 at the National Hospital of Pediatrics. The average age of children diagnosed and received ERT were 4.2 and 4.9 months, respectively. Male/ female rate was 15/16. The average duration of ERT was 20 months. 100% of patients survived after 1 year of management; 77.4% of patients reached an average age of 34 months. 24/25 patients improved heart function after 1 year of management: left ventricular mass index (LVMI) decreased from 183 g /m2 to 70 g/m2. 66.7% of patients ambulated independently with the current mean age of 3 years. 4/31 patients required respiratory support (tracheostomy / mechanical ventilation) and require oral tube feeding. In conclusion, ERT for IOPD pediatric patients has been significantly effective, especially in early diagnosis.

Article Details

Keywords

infantile onset pompe disease.

References

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