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ISSN 1561-3119 (Electronic)

2016, Number 3

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Rev Cubana Pediatr 2016; 88 (3)

Diagnosis and treatment of Pompe disease

de León-Ojeda NE, Seiglie-Díaz F, García-García A, Tápanes-Daumy H, Verdecia CC, Acosta ST, Larrinaga VLE, León DC

Language: Spanish
References: 26
Page: 375-387
PDF size: 219.01 Kb.


ABSTRACT

Introduction: Pompe disease is a type II glycogenosis with recessive autosomal inheritance pattern, which is caused by the acid alpha-glucosidase enzyme that brings about buildup of glycogen in macrophage lysosomes. The gene is already mapped in Chromosome 17q25 and has been so far detected over 460 mutations. Three clinical forms of disease were described, including infantile, juvenile and late-onset varieties. The infantile variety is characterized by hpertrophic or infiltratin myocardiopathy, hypotonia, hepatomegaly and macroglossia. The juvenile type comprises recurrent fiver, repeated respiratory infections and progressive motor disability. Enzyme replacement therapy changes the clinical course of disease.
Case presentation: the elements for diagnosis of 4 cases were submitted, 3 of them with infantile form and one with juvenile one. The results of the molecular study were discussed. The clinical progress of 2 of them after 6 monts and one year of treatment with the enzymatic replacement therapy using acid alpha-glucosidase (myozyme), which led to improvement of biochemical and clinical parameters in both cases.
Conclusions: careful clinical assessment of patients with Pompe disease to early diagnose it and the onset of the enzyme replacement therapy help to improve muscle, motor and cardiovascular functions, which has an impact on survival and quality of life of these children.


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