Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy

Journal of Pediatric Gastroenterology and Nutrition
Stanley A CohenHeather E Elser

Abstract

The epidemiology and clinical significance of disaccharidase deficiencies have not been thoroughly characterized. Recent work suggests at least genetic sucrase-isomaltase deficiency is more prevalent than previously believed. Because lactase deficiency (LD) is well described, the present study focuses on the clinical characteristics of children with disaccharidase deficiencies determined by esophagogastroduodenoscopy. Endoscopic records were reviewed from patients undergoing esophagogastroduodenoscopies with biopsies assayed for disaccharidase activity performed by 13 pediatric gastroenterologists during 5 years (2010-2014). Presenting symptoms, clinical and histological diagnosis, treatment, disaccharidase results, and demographic variables were obtained from medical and endoscopic records of those with maltase and sucrase deficiency (SD). Among 963 patients undergoing intestinal disaccharidase testing, 73 (7.6%) had SD on biopsy (enzyme activity <25 μmol · min · g). Thirty-four (34/73; 47%) had normal duodenal histology and are the focus of this report. Four patients had SD without LD. Pan-disaccharidase deficiency was observed in 24 patients when maltase and palatinase assays were obtained (n = 646), and 11 had SD + LD when ...Continue Reading

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Citations

Jul 2, 2020·Journal of Neurogastroenterology and Motility·Yong Hwan Kwon
Dec 21, 2019·The Clinical Biochemist. Reviews·Matthew Burke
Jul 25, 2019·American Journal of Clinical Pathology·Robyn C Reed, M Cristina Pacheco
Aug 1, 2020·Journal of Pediatric Gastroenterology and Nutrition·Chirajyoti DebDevendra I Mehta
May 16, 2018·Journal of Pediatric Gastroenterology and Nutrition·Buford Nichols, William J Klish

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