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Date Published: 05/05/2021
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DOI: https://doi.org/10.51298/vmj.v498i2.200
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Vol. 498 No. 2 (2021)
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Các bài báo
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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

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