[Pompe's disease: the role for early diagnosis and treatment].
Pompe's disease (PD) is a glycogen storage disease characterized by the deposition of glycogen within body cells. This may lead to severe cardiac hypertrophy, with heart failure. The authors describe a female infant with PD, who developed severe cardiac hypertrophy, and was treated with recombinant human enzyme replacement therapy. This approach led to a progressive reduction of the heart hypertrophy, with improvement of the clinical condition.
Cerini
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UO Patologia Neonatale e TIN, AO C. Poma, Mantova. emmacerini@yahoo.it
Bini
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Donati
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Andaloro
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D000367:Age Factors; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000008:administration & dosage / Q000627:therapeutic use; D000959:Antihypertensive Agents / Q000008:administration & dosage / Q000627:therapeutic use; D002216:Captopril / Q000008:administration & dosage / Q000627:therapeutic use; D006332:Cardiomegaly / Q000175:diagnosis / Q000188:drug therapy; D004232:Diuretics / Q000008:administration & dosage / Q000627:therapeutic use; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D005260:Female; D005665:Furosemide / Q000008:administration & dosage / Q000627:therapeutic use; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D007223:Infant; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000008:administration & dosage / Q000627:therapeutic use
D000806:Angiotensin-Converting Enzyme Inhibitors; D000959:Antihypertensive Agents; D004232:Diuretics; D011994:Recombinant Proteins; D005665:Furosemide; D002216:Captopril; D000520:alpha-Glucosidases