Articles Tập 67 Số CĐ16 05/11/2026

DIAGNOSTIC DELAY AND CARDIORESPIRATORY BURDEN IN CHILDREN WITH POMPE DISEASE AT CHILDREN’S HOSPITAL 1

Nguyen Thi Thanh Huong, Phung Nguyen The Nguyen
DOI: 10.52163/yhc.v67iCD16.6992
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Abstract

Objective: To describe diagnostic delay and cardiorespiratory burden in children with Pompe disease managed at Children’s Hospital 1, Ho Chi Minh City, Vietnam.

Subjects and methods: A descriptive study was conducted in 28 pediatric patients with confirmed Pompe disease based on reduced acid α-glucosidase activity and pathogenic or likely pathogenic GAA variants. Patients were classified as infantile-onset Pompe disease (IOPD) or late-onset Pompe disease (LOPD). Data on diagnostic timing, clinical manifestations, biochemical findings, cardiac involvement, respiratory support, enzyme replacement therapy, tracheostomy, wheelchair dependence, and survival status were analyzed.

Results: Among 28 patients, 25 had IOPD and 3 had LOPD. Mean age at symptom onset was 9.4 ± 14.4 months overall, 4.8 ± 3.7 months in IOPD, and 48.0 ± 12.0 months in LOPD. Mean age at diagnosis was 23.3 ± 46.6 months overall, 7.8 ± 6.4 months in IOPD, and 152.4 ± 28.8 months in LOPD. Respiratory failure occurred in 27/28 patients, recurrent respiratory infection in 25/28, and muscle weakness or hypotonia in 22/28. All IOPD patients with available cardiac data had cardiomegaly and ventricular hypertrophy. Mechanical ventilation was required in 19/28 patients, tracheostomy in 10/28, and 19 deaths were recorded, all in the IOPD group.

Conclusion: Pediatric Pompe disease in this cohort was often diagnosed after substantial cardiorespiratory involvement. Earlier recognition, timely enzymatic and genetic testing, and structured multidisciplinary follow-up are essential in Vietnam.

Keywords
Pompe disease, acid α-glucosidase, diagnostic delay, respiratory failure, hypertrophic cardiomyopathy, enzyme replacement therapy
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