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Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy.
J Pediatr Gastroenterol Nutr. 2018 Jun; 66 Suppl 3:S56-S60.JP

Abstract

OBJECTIVES

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.

METHODS

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).

RESULTS

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 just those 2 enzymes were analyzed (n = 317). Those with SD without LD were younger 4.6 ± 6.1 versus 14.1 ± 3.6 years and uniformly presented with diarrhea. Patients with pan-disaccharidase deficiency or SD + LD primarily reported abdominal pain (33/35; 94%), diarrhea (16/35; 46%), nausea (14/35; 40%); and poor weight gain/weight loss (10/35; 29%); constipation, flatulence, and bloating were also noted. Maltase deficiency is less common (8/963; 0.8%), presenting with similar symptoms.

CONCLUSIONS

Genetic sucrase-isomaltase deficiency often occurs together with lactase or pan-disaccharide deficiency. Disaccharidase deficiency should be considered a potential cause of abdominal pain and/or diarrhea in children and adolescents.

Authors+Show Affiliations

Children's Center for Digestive Health Care, LLC. Children's Healthcare of Atlanta, Atlanta, GA.Children's Center for Digestive Health Care, LLC.Children's Center for Digestive Health Care, LLC. Children's Healthcare of Atlanta, Atlanta, GA.Children's Center for Digestive Health Care, LLC. Children's Healthcare of Atlanta, Atlanta, GA.QOL Medical, LLC, Vero Beach, FL.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

29762380

Citation

Cohen, Stanley A., et al. "Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy." Journal of Pediatric Gastroenterology and Nutrition, vol. 66 Suppl 3, 2018, pp. S56-S60.
Cohen SA, Oloyede H, Gold BD, et al. Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy. J Pediatr Gastroenterol Nutr. 2018;66 Suppl 3:S56-S60.
Cohen, S. A., Oloyede, H., Gold, B. D., Mohammed, A., & Elser, H. E. (2018). Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy. Journal of Pediatric Gastroenterology and Nutrition, 66 Suppl 3, S56-S60. https://doi.org/10.1097/MPG.0000000000001961
Cohen SA, et al. Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy. J Pediatr Gastroenterol Nutr. 2018;66 Suppl 3:S56-S60. PubMed PMID: 29762380.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy. AU - Cohen,Stanley A, AU - Oloyede,Hannah, AU - Gold,Benjamin D, AU - Mohammed,Aminu, AU - Elser,Heather E, PY - 2018/5/16/entrez PY - 2018/5/16/pubmed PY - 2019/4/24/medline SP - S56 EP - S60 JF - Journal of pediatric gastroenterology and nutrition JO - J. Pediatr. Gastroenterol. Nutr. VL - 66 Suppl 3 N2 - OBJECTIVES: 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. METHODS: 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). RESULTS: 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 just those 2 enzymes were analyzed (n = 317). Those with SD without LD were younger 4.6 ± 6.1 versus 14.1 ± 3.6 years and uniformly presented with diarrhea. Patients with pan-disaccharidase deficiency or SD + LD primarily reported abdominal pain (33/35; 94%), diarrhea (16/35; 46%), nausea (14/35; 40%); and poor weight gain/weight loss (10/35; 29%); constipation, flatulence, and bloating were also noted. Maltase deficiency is less common (8/963; 0.8%), presenting with similar symptoms. CONCLUSIONS: Genetic sucrase-isomaltase deficiency often occurs together with lactase or pan-disaccharide deficiency. Disaccharidase deficiency should be considered a potential cause of abdominal pain and/or diarrhea in children and adolescents. SN - 1536-4801 UR - https://www.unboundmedicine.com/medline/citation/29762380/Clinical_Characteristics_of_Disaccharidase_Deficiencies_Among_Children_Undergoing_Upper_Endoscopy_ L2 - http://dx.doi.org/10.1097/MPG.0000000000001961 DB - PRIME DP - Unbound Medicine ER -