Purpose. To determine the usefulness of abdominal sonography in inherited diseases of carbohydrate metabolism. Materials and methods. Thirty patients (age range, 4 months to 27 years) with glycogen storage diseases, galactosemia, disorders of fructose metabolism were studied with sonography. Echogenicity of the liver, sonographic dimensions of liver, kidneys and spleen were evaluated. Plasma blood parameters (ALT, AST, total cholesterol, triglycerides) were determined. Results. Liver was enlarged in 21/22 patients (95.4%) with glycogen storage diseases, in both subjects with disorders of fructose metabolism, and in 2/6 patients (33.3%) with galactosemia. Hepatic echogenicity was increased in 20/22 patients (90.9%) with glycogen storage diseases, and in the subject with hereditary fructose intolerance. Patients with galactosemia did not show increased liver echogenicity. Both kidneys were enlarged in 8/17 patients (47.0%) with glycogen storage disease type I. Subjects with increased hepatic echogenicity exhibited higher plasma concentrations of any blood parameter than the others with normal echogenicity (p<0.05). Conclusions. Sonography can be useful in identification of inherited diseases of carbohydrate metabolism even if further examinations are necessary for an ultimate diagnosis.
Ecografia dell'addome nelle malattie ereditarie del metabolismo dei carboidrati / C. Pozzato, A. Curti, G. Radaelli, L. Fiori, S.A. Rossi, E. Riva, G. Cornalba. - In: LA RADIOLOGIA MEDICA. - ISSN 0033-8362. - 109:1-2(2005), pp. 139-147.
|Titolo:||Ecografia dell'addome nelle malattie ereditarie del metabolismo dei carboidrati|
POZZATO, CARLO PAOLO (Primo)
CURTI, ALESSANDRA (Secondo)
RIVA, ENRICA LICIA (Penultimo)
CORNALBA, GIANPAOLO (Ultimo)
|Parole Chiave:||Ecografia, Malattie ereditarie, Metabolismo dei carboidrati, Fegato, Rene|
|Settore Scientifico Disciplinare:||Settore MED/36 - Diagnostica per Immagini e Radioterapia|
Settore MED/38 - Pediatria Generale e Specialistica
|Data di pubblicazione:||2005|
|Appare nelle tipologie:||01 - Articolo su periodico|