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Published on: December 20, 2017
Infantile-onset Pompe disease in seven Mexican children
Luz M Sánchez-Sánchez1, Carmen Ávila-Rejón2, Rubicel Díaz-Martínez3
1Pediatrcs Department, Specialty Hospital 25, Instituto Mexicano del Seguro Social, Nuevo León.
Insights
This study analyzed Mexican infants with Pompe disease (PD), a rare metabolic disorder. Genotype strongly correlated with disease severity and survival, guiding treatment strategies for infantile-onset PD.
Area of Science:
- Genetics
- Metabolic Disorders
- Pediatrics
Background:
- Pompe disease (PD) is a rare, severe metabolic myopathy.
- Infantile-onset PD typically leads to death before age one.
- Non-classical forms present slower progression and longer survival.
Purpose of the Study:
- To characterize the genotype and clinical features of Mexican patients with infantile-onset PD.
- To investigate the relationship between genetic mutations and disease presentation in this population.
- To inform diagnostic and therapeutic approaches for pediatric Pompe disease.
Main Methods:
- Seven pediatric patients with confirmed PD were analyzed.
- Enzymatic activity and GAA gene sequencing were performed.
- Genomic databases were used to review identified mutations.
Main Results:
- Median onset at 4 months, diagnosis at 8 months.
- All patients exhibited cardiomyopathy.
- Genotype correlated with severity: severe mutations (CRIM-negative) led to early death, while less severe mutations (CRIM-positive) allowed survival with enzyme replacement therapy.
Conclusions:
- A strong genotype-phenotype correlation exists in infantile-onset Pompe disease.
- Genetic analysis is crucial for predicting disease trajectory.
- CRIM status is a significant factor in treatment response and prognosis.
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.
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