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Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy
Stanley A Cohen1,2, Hannah Oloyede1, Benjamin D Gold1,2
1Children's Center for Digestive Health Care, LLC.
Insights
Disaccharidase deficiencies, particularly sucrase-isomaltase deficiency, are more common in children than previously thought. These conditions often present with abdominal pain and diarrhea, warranting consideration in pediatric diagnoses.
Area of Science:
- Pediatric Gastroenterology
- Gastrointestinal Disorders
- Enzyme Deficiencies
Background:
- Disaccharidase deficiencies, including sucrase-isomaltase deficiency (SD), are not well characterized epidemiologically.
- Recent evidence suggests SD may be more prevalent than previously understood.
- Lactase deficiency (LD) is well-documented, but clinical features of other disaccharidases in children require further investigation.
Purpose of the Study:
- To investigate the clinical characteristics of children diagnosed with disaccharidase deficiencies via esophagogastroduodenoscopy.
- To determine the prevalence and presenting symptoms of sucrase-isomaltase deficiency and other disaccharidase deficiencies in a pediatric cohort.
Main Methods:
- Retrospective review of endoscopic records from 963 pediatric patients undergoing esophagogastroduodenoscopies with disaccharidase activity assays.
- Data collected included presenting symptoms, diagnoses, treatments, enzyme results, and demographic variables for patients with maltase and sucrase deficiency.
- Focus on patients with normal duodenal histology and those with various combinations of disaccharidase deficiencies.
Main Results:
- 7.6% of patients (73/963) had sucrase deficiency (SD); 47% of these had normal duodenal histology.
- SD occurred with normal histology in younger children (4.6 years) who uniformly presented with diarrhea.
- Pan-disaccharidase deficiency or SD with LD presented with abdominal pain, diarrhea, nausea, and poor weight gain; maltase deficiency was rare (0.8%).
Conclusions:
- Genetic sucrase-isomaltase deficiency frequently co-occurs with lactase or pan-disaccharidase deficiency.
- Disaccharidase deficiencies should be considered in the differential diagnosis for pediatric abdominal pain and/or diarrhea.
- Further research into the clinical significance and prevalence of these enzyme deficiencies in children is warranted.
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.
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