Mosaic pattern of sucrase isomaltase deficiency in two brothers
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Mosaic pattern of sucrase isomaltase deficiency in two brothers. / Reinshagen, Konrad; Keller, Klaus M; Haase, Bianca; Leeb, Tosso; Naim, Hassan Y; Zimmer, Klaus P.
in: PEDIATR RES, Jahrgang 63, Nr. 1, 01.2008, S. 79-83.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Mosaic pattern of sucrase isomaltase deficiency in two brothers
AU - Reinshagen, Konrad
AU - Keller, Klaus M
AU - Haase, Bianca
AU - Leeb, Tosso
AU - Naim, Hassan Y
AU - Zimmer, Klaus P
PY - 2008/1
Y1 - 2008/1
N2 - The pathophysiology of mucosal changes observed in infants with chronic protracted diarrhea is poorly understood. We report on two brothers suffering from a special form of sucrase isomaltase (SI) deficiency. The children presented with weight loss and dyspepsia after sucrose exposition. We performed an H respiration test, which showed a pathologic result in the younger brother. Analysis of the brush border enzyme activities showed low expression of lactase and SI. Immunoelectron microscopy of duodenal biopsies showed an isolated SI deficiency in a mosaic pattern [e.g., 42% (14%) crypt enterocytes and 64% (59%) villus enterocytes with decreased amounts of SI on microvilli], whereas lactase and aminopeptidase n (ApN) were present at the apical membrane of all cells in a normal range. The SI mosaic pattern of these patients shows that the enterocytes contain low amounts of SI on the apical membrane but express normal quantities of other disaccharidases. These findings suggest the existence of different clonal expressions or specific (posttranslational) mechanisms of postGolgi transportation for individual brush border enzymes. It remains unresolved whether the mosaic distribution is part of a normal maturation process or caused by a lack of an overall control mechanism in the expression of brush border hydrolases.
AB - The pathophysiology of mucosal changes observed in infants with chronic protracted diarrhea is poorly understood. We report on two brothers suffering from a special form of sucrase isomaltase (SI) deficiency. The children presented with weight loss and dyspepsia after sucrose exposition. We performed an H respiration test, which showed a pathologic result in the younger brother. Analysis of the brush border enzyme activities showed low expression of lactase and SI. Immunoelectron microscopy of duodenal biopsies showed an isolated SI deficiency in a mosaic pattern [e.g., 42% (14%) crypt enterocytes and 64% (59%) villus enterocytes with decreased amounts of SI on microvilli], whereas lactase and aminopeptidase n (ApN) were present at the apical membrane of all cells in a normal range. The SI mosaic pattern of these patients shows that the enterocytes contain low amounts of SI on the apical membrane but express normal quantities of other disaccharidases. These findings suggest the existence of different clonal expressions or specific (posttranslational) mechanisms of postGolgi transportation for individual brush border enzymes. It remains unresolved whether the mosaic distribution is part of a normal maturation process or caused by a lack of an overall control mechanism in the expression of brush border hydrolases.
KW - CD13 Antigens/analysis
KW - Carbohydrate Metabolism, Inborn Errors/enzymology
KW - Child
KW - Duodenum/enzymology
KW - Enterocytes/enzymology
KW - Genotype
KW - Humans
KW - Lactase/analysis
KW - Male
KW - Microvilli/enzymology
KW - Mosaicism
KW - Pedigree
KW - Phenotype
KW - Siblings
KW - Sucrase-Isomaltase Complex/analysis
U2 - 10.1203/PDR.0b013e31815b4bac
DO - 10.1203/PDR.0b013e31815b4bac
M3 - SCORING: Journal article
C2 - 18043509
VL - 63
SP - 79
EP - 83
JO - PEDIATR RES
JF - PEDIATR RES
SN - 0031-3998
IS - 1
ER -