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Pompe's disease. Part I: pathogenesis and clinical features

Illés, Zsolt ; Trauninger, Anita

Ideggyógyászati szemle, 2009-07, Vol.62 (7-8), p.231 [Periódico revisado por pares]

Hungary

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Título:
Pompe's disease. Part I: pathogenesis and clinical features
Autor: Illés, Zsolt ; Trauninger, Anita
Assuntos: Adolescent ; Adult ; Age of Onset ; alpha-Glucosidases - administration & dosage ; alpha-Glucosidases - deficiency ; alpha-Glucosidases - genetics ; Animals ; Biopsy ; Cardiomyopathies - etiology ; Child ; Child, Preschool ; Diagnosis, Differential ; Disease Models, Animal ; DNA Mutational Analysis ; Glycogen Storage Disease Type II - complications ; Glycogen Storage Disease Type II - diagnosis ; Glycogen Storage Disease Type II - drug therapy ; Glycogen Storage Disease Type II - enzymology ; Glycogen Storage Disease Type II - genetics ; Glycogen Storage Disease Type II - physiopathology ; Heart Function Tests ; Humans ; Infant ; Muscle Fibers, Skeletal - enzymology ; Muscle Fibers, Skeletal - pathology ; Muscle Hypotonia - enzymology ; Muscle Hypotonia - etiology ; Muscle Hypotonia - pathology ; Phenotype ; Polysomnography ; Respiratory Function Tests ; Respiratory Insufficiency - etiology
É parte de: Ideggyógyászati szemle, 2009-07, Vol.62 (7-8), p.231
Descrição: 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.
Editor: Hungary
Idioma: Húngaro

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Pompe's disease. Part I: pathogenesis and clinical features

Illés, Zsolt ; Trauninger, Anita

Hungary

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