Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei.

Translated title of the contribution: Congenital saccharase-isomaltase defect--diagnostic difficulties

J. Kovács, M. Lörincz, J. Sashegyi, A. Marton, K. Simon

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageHungarian
Pages (from-to)2577-2582
Number of pages6
JournalOrvosi Hetilap
Volume130
Issue number48
Publication statusPublished - Nov 26 1989

Fingerprint

Oligo-1,6-Glucosidase
beta-Fructofuranosidase
Sucrase
Lactase
Diagnostic Errors
Disaccharidases
Lactose Intolerance
Enzymes
Abdomen
Small Intestine
Biopsy
Control Groups
Infection
Congenital Sucrase-Isomaltase Deficiency

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kovács, J., Lörincz, M., Sashegyi, J., Marton, A., & Simon, K. (1989). Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei. Orvosi Hetilap, 130(48), 2577-2582.

Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei. / Kovács, J.; Lörincz, M.; Sashegyi, J.; Marton, A.; Simon, K.

In: Orvosi Hetilap, Vol. 130, No. 48, 26.11.1989, p. 2577-2582.

Research output: Contribution to journalArticle

Kovács, J, Lörincz, M, Sashegyi, J, Marton, A & Simon, K 1989, 'Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei.', Orvosi Hetilap, vol. 130, no. 48, pp. 2577-2582.
Kovács J, Lörincz M, Sashegyi J, Marton A, Simon K. Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei. Orvosi Hetilap. 1989 Nov 26;130(48):2577-2582.
Kovács, J. ; Lörincz, M. ; Sashegyi, J. ; Marton, A. ; Simon, K. / Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei. In: Orvosi Hetilap. 1989 ; Vol. 130, No. 48. pp. 2577-2582.
@article{8735b1e4dbb448f18abddc1b8638b4d0,
title = "Congenitalis saccharase-isomaltase defektus--a diagn{\'o}zis neh{\'e}zs{\'e}gei.",
abstract = "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.",
author = "J. Kov{\'a}cs and M. L{\"o}rincz and J. Sashegyi and A. Marton and K. Simon",
year = "1989",
month = "11",
day = "26",
language = "Hungarian",
volume = "130",
pages = "2577--2582",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "48",

}

TY - JOUR

T1 - Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei.

AU - Kovács, J.

AU - Lörincz, M.

AU - Sashegyi, J.

AU - Marton, A.

AU - Simon, K.

PY - 1989/11/26

Y1 - 1989/11/26

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0024979215&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024979215&partnerID=8YFLogxK

M3 - Article

C2 - 2513545

AN - SCOPUS:0024979215

VL - 130

SP - 2577

EP - 2582

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 48

ER -