ArticleFuture science OA2025
Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.
Article in Future science OA, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPompe disease (PD) is a rare autosomal recessive disorder caused by pathogenic variants in the
methodsThis retrospective, single-center study included 26 Vietnamese pediatric patients diagnosed with PD. Clinical, biochemical, and genetic data were systematically collected. Genotype-phenotype correlation, CRIM status distribution, and survival outcomes were analyzed.
resultsOf 26 patients, 23 had IOPD and 3 had LOPD. CRIM-positive status was identified in 87.0% of IOPD and 33.3% of LOPD patients. The most frequent variants were c.1843G > A and c.1933G > C. Two previously unreported variants (c.2016del, c.1723T > C) were detected. Hypertrophic cardiomyopathy and hypotonia were universal among IOPD cases. Despite ERT administration in 52.9% of patients, overall mortality in the infantile group was 60.8%. Variant pathogenicity correlated with both CRIM status and clinical outcomes.
conclusionThese findings underscore the clinical importance of comprehensive
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