[Congenital saccharase-isomaltase defect--diagnostic difficulties].
Seven patients with congenital sucrase-isomaltase deficiency corresponding to the known diagnostic criteria and five patients having combined disaccharidase deficiencies with unusual pattern characterized by more pronounced sucrase than lactase deficiency were found among 505 children investigated by first jejunal biopsy. On the base of the case histories, the complications and the comparative evaluation of patient and control groups' data (the latter consisted of nine untreated coeliacs) the congenital sucrase-isomaltase deficiency was found to make the patients to be especially susceptible to enteral infections and consequently to postinfectious intestinal damages. These complicated cases do not correspond to the classic diagnostic criteria of the congenital enzyme deficiency causing diagnostic errors. In order to avoid the misdiagnoses the authors suggest modification of the diagnostic criteria of congenital sucrase-isomaltase deficiency as follows: the diagnosis of congenital enzyme deficiency might be verified in spite of mild histological signs and hypolactasia if the degree of lactase deficiency repeatedly and significantly is exceeded by the degree of sucrase deficiency.
Kovács
J B
JB
Lörincz
M
M
Sashegyi
J
J
Marton
A
A
Simon
K
K
D001706:Biopsy; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D002446:Celiac Disease / Q000175:diagnosis / Q000201:enzymology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007410:Intestinal Diseases / Q000201:enzymology / Q000209:etiology; D007413:Intestinal Mucosa / Q000201:enzymology; D007583:Jejunum / Q000201:enzymology; D008297:Male; D009097:Multienzyme Complexes / Q000378:metabolism*; D013393:Sucrase / Q000172:deficiency*; D013394:Sucrase-Isomaltase Complex / Q000378:metabolism*; D001616:beta-Galactosidase / Q000172:deficiency
D009097:Multienzyme Complexes; D013394:Sucrase-Isomaltase Complex; D001616:beta-Galactosidase; D013393:Sucrase
Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei.