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Gaceta médica de México
On-line version ISSN 2696-1288Print version ISSN 0016-3813
Abstract
SANCHEZ-SANCHEZ, Luz M. et al. Infantile-onset Pompe disease in seven Mexican children. Gac. Méd. Méx [online]. 2022, vol.158, n.5, pp.275-280. Epub Nov 18, 2022. ISSN 2696-1288. https://doi.org/10.24875/gmm.22000027.
Introduction:
Pompe disease (PD) is a rare form of metabolic myopathy; the classic infantile presentation is severe, with death occurring before reaching one year of life, and the non-classical form is of slower progression and survival can exceed one year.
Objective:
To describe the genotype and characteristics of Mexican patients with infantile-onset PD.
Methods:
Seven patients with PD confirmed by enzymatic activity determination and GAA gene molecular analysis were included. Mutations were reviewed in genomic databases.
Results:
Median age at symptom onset was four months (1-12 months) and age at diagnosis was eight months (4-16 months). All patients had cardiomyopathy: four who died before one year of age had mutations that predicted severe disease (c.2431dup, c.2560C>T, c.655G>A, c.1987delC) and were negative for cross-reactive immunologic material (CRIM). Three patients survived after one year of age with enzyme replacement therapy; one survived almost five years, another 18 months, and one girl was almost three years of age at the time of this report; their pathogenic variants predicted potentially less severe disease (c.1979G>A, c.655G>A, c.1447G>A) and they were positive for CRIM.
Conclusion:
There was a good correlation between genotype and phenotype in children with Pompe disease.
Keywords : Infantile Pompe disease; Metabolic myopathy; Children.