Article Sidebar

PDF
Date Published: 05/05/2021
Abstract Views: 409
Views PDF: 537
DOI: https://doi.org/10.51298/vmj.v498i2.200
Issue
Vol. 498 No. 2 (2021)
Section
Các bài báo
How to Cite
Chí Dũng, V. ., & Ngọc Khánh, N. (2021). GENOTYPE, PHENOTYPE OF INFANTILE ONSET POMPE DISEASES AT NATIONAL CHILDREN’S HOSPITAL. Vietnam Medical Journal, 498(2). https://doi.org/10.51298/vmj.v498i2.200

GENOTYPE, PHENOTYPE OF INFANTILE ONSET POMPE DISEASES AT NATIONAL CHILDREN’S HOSPITAL

Vũ Chí Dũng, Nguyễn Ngọc Khánh

Main Article Content

Abstract

Pompe disease is a rare inherited disease caused byGAA gene mutations. GAA gene mutations are heterogenous, genetic variants and identify CRIM results for proper management planning. Objectives: To describe the phenotype and genotype of IOPD patientsat the National Children’s Hospital  (NCH). Objects and methods: Study on case series of 52 IOPD patients from 2014 at the NCH. Results:49/52 IOPD patients were classical type. Average age of diagnosis 4.5 months (10 days - 24 months). Male/female rate: 23/29. 5/51 families have a history of siblings with similar illness. Phenotypic characteristics: muscle weakness, poor feeding, respiratory failure, heart failure, large tongue, slight increase in transaminase and CK, hypertrophic cardiomyopathy with LVMI of 183g/m2. Genotype characteristics of GAA: 32/32 patients were identfied mutations. The common mutation c.1933G> C accounted of 50%, 41% genotype is homozygous c.1933G> C, 96% is CRIM positive. Conclusion: The detection of common mutations, phenotypic characteristics in Vietnamese people, helps to plan for management and appropriate genetic counseling.

Article Details

Keywords

GAA gene

References

1. Taverna, S., Cammarata, G., Colomba, P., Sciarrino, S., Zizzo, C., Francofonte, D., … Duro, G. (2020). Pompe disease: pathogenesis, molecular genetics and diagnosis. Aging (Albany NY), 12(15), 15856–15874.
2. Peruzzo, P., Pavan, E., & Dardis, A. (2019). Molecular genetics of Pompe disease: a comprehensive overview. Annals of Translational Medicine, 7(13).
3. Fukuhara, Y., Fuji, N., Yamazaki, N., Hirakiyama, A., Kamioka, T., Seo, J.-H., … Okuyama, T. (2017). A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. Molecular Genetics and Metabolism Reports, 14, 3–9.
4. Kim, M.-S., Song, A., Im, M., Huh, J., Kang, I.-S., Song, J., … Jin, D.-K. (2018). Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center. Journal of the Korean Pediatric Society.
5. Ngiwsara, L., Wattanasirichaigoon, D., Tim-Aroon, T., Rojnueangnit, K., Noojaroen, S., Khongkraparn, A., … Svasti, J. (2019). Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand. BMC Medical Genetics, 20.
6. Al-Hassnan, Z. N., Khalifa, O. A., Bubshait, D. K., Tulbah, S., Alkorashy, M., Alzaidan, H., … Al-Sayed, M. (2018). The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. Molecular Genetics and Metabolism Reports, 15, 50–54.
7. Capelle, C. I. van, Poelman, E., Frohn-Mulder, I. M., Koopman, L. P., Hout, J. M. P. van den, Régal, L., … Ploeg, A. T. van der. (2018). Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. International Journal of Cardiology, 269, 104–110.