[Pompe's disease. Part I: pathogenesis and clinical features]. / Pompe-kór -- I. Rész--A betegség patogenezise és klinikuma.
Ideggyogy Sz
; 62(7-8): 231-43, 2009 Jul 30.
Article
em Hu
| MEDLINE
| ID: mdl-19685701
ABSTRACT
Pompe's disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. According to the natural course, early infantile and late childhood-juvenile-adult cases are known. Respiratory insufficiency, cardiomyopathy, and muscle hypotonia are cardinal symptoms/signs in infantile Pompe's disease, while cardiomyopathy is absent in adult-onset cases. CK levels are always elevated in the sera of infantile patients. Hip-girdle dystrophy and orthopnoe should alert suspicion in adult patients. Diagnosis is established by decreased activity of the enzyme or mutational analysis. Muscle biopsy can be misleading in adult cases due to absence of glycogen in the examined specimen. In this review, we also discuss our experiences obtained by the treatment of three patients.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo II
/
Alfa-Glucosidases
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Animals
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Child
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Child, preschool
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Humans
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Infant
Idioma:
Hu
Revista:
Ideggyogy Sz
Ano de publicação:
2009
Tipo de documento:
Article