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Published: 2021-06-09
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DOI: https://doi.org/10.52852/tcncyh.v140i4.125
Issue
Vol. 140 No. 4 (2021)
Section
Các bài báo
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Mai, Đỗ T. T. ., & Dũng, V. C. . (2021). Frequency and causes of re-hospitalization of pompe patients with enzyme replacement therapy at the vietnam national children’s hospital. Journal of Medical Research, 140(4), 14-19. https://doi.org/10.52852/tcncyh.v140i4.125

Frequency and causes of re-hospitalization of pompe patients with enzyme replacement therapy at the vietnam national children’s hospital

Đỗ Thị Thanh Mai, Vũ Chí Dũng

Main Article Content

Abstract

Pompe is a rare disease caused by a deficiency of the lysosomal enzyme acid-α-glucosidase (GAA). This results in glycogen accumulation in tissues, especially muscles, and impairs their ability to function normally. The most severe is the classic infantile-onset disease, with death before 1 year of age. At Vietnam National Children’s  Hospital, enzyme replacement therapy to treat Pompe disease started since 2015. The study was performed to identify frequency and cause of hospitalization of 15 Pompe patients who are being treated with enzyme replacement therapy as a case series study. The result showed that 15 patients were from the North and North Central provinces. The rate of male/female was 7/8. The mean age of diagnosis was 4.6 ± 4 months, the current mean age was 3.1 ± 0.9 years. The median frequency of hospitalization in the first year was 2 times / year, in the 2nd  year was 1 time / year, in the 3rd  year was 2 times / year, in the 4th year was 0.5 times / year, in the 5th  year was 1 time / year. The median day of hospitalization in the first year was 17 days, the  2nd  year was 7 days, the 3rd  year was 22 days, the 4th year  was 1.5 days, the 5th year was 8 days.The reasons for hospitalization of patients are respiratory infections ( 91.4%), influenza infection, measles (4.3%), gastrointestinal disease (4.3%). The study showed that hospitalization frequency of Pompe patients tends to decrease with treatment time and the main cause of hospitalization was respiratory tract infection; it is recommended to expand neonatal screening and molecular analysis for early diagnosis and prenatal genetic counseling.

Article Details

Keywords

Pompe, enzyme replacement, frequency of hospitalization

References

1. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: (acid maltase) deficiency. In: Scriver CR,Beaudet AL, Sly WS, Valle D, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease (OMMBID). New York: McGraw-Hill. 2001;3389-3420.
2. Di Sant Agnese P, Andersen DH, Mason HH. Glycogen storage disease of the heart. Pediatrics . 1950;6 (4):607- 624.
3. Van den Hout JM, Reuser AJ, de Klerk JB et al. Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis. 2001;24:266–274
4. Klinge L, Straub V, Neudorf U et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord. 2005;15:24–31.
5. Priya S.K, Robert D.S, Deeksha B et al. Pompe disease diagnosis and management guideline. Genet Med.  2006;8(5):267- 88.
6. Priya S.K, Deya C, Nancy D.L et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009;66:329– 35.
7. Zuhair NA, Ola AK, Dalal KB et al. The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. Molecular Genetics and Metabolism Reports. 2018;15:50- 54.
8. Fukuhara Y,. Fuji N, Yamazaki N et al. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. Molecular Genetics and Metabolism Reports. 2018;14:3- 9.
9. Chakrapani A, Vellodi A, Robinson P et al. Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J. Inherit. Metab. Dis. 2010;33:747-750.