Abdominal ultrasonography in inheredited diseases of carbohydrate metabolism.
OBJECTIVE
To determine the usefulness of abdominal sonography in inherited diseases of carbohydrate metabolism.


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.
Pozzato
C
C
Unità Operativa di Radiologia Diagnostica ed Interventistica, Istituto di Scienze Radiologiche, Cattedra di Radiologia, Università degli Studi di Milano, Ospedale San Paolo, Milano, Italy.
Curti
A
A
Radaelli
G
G
Fiori
L
L
Rossi
S
S
Riva
E
E
Cornalba
G
G
D000293:Adolescent; D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging*; D008099:Liver / Q000000981:diagnostic imaging*; D008297:Male; D011859:Radiography; D013154:Spleen / Q000000981:diagnostic imaging; D014463:Ultrasonography