Document Type
Article
Publication Date
1-1-2020
Identifier
DOI: 10.1371/journal.pone.0231891
Abstract
OBJECTIVE: The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and the relative GI symptom burden associated with SI genotype within the study population.
METHODS: A prospective study conducted at 18 centers enrolled 308 non-Hispanic white children ≤18 years old who were experiencing chronic, idiopathic, loose stools at least once per week for >4 weeks. Data on demographics, GI symptoms, and genotyping for 37 SI hypomorphic variants were collected. Race/ethnicity-matched SI data from the Exome Aggregation Consortium (ExAC) database was used as the general population reference.
RESULTS: Compared with the general population, the cumulative prevalence of hypomorphic SI variants was significantly higher in the study population (4.5% vs. 1.3%, P < .01; OR = 3.5 [95% CI: 6.1, 2.0]). Within the study population, children with a hypomorphic SI variant had a more severe GI symptom burden than those without, including: more frequent episodes of loose stools (P < .01), higher overall stool frequency (P < .01), looser stool form (P = .01) and increased flatulence (P = .02).
CONCLUSION: Non-Hispanic white children with chronic idiopathic loose stools have a higher prevalence of CSID-associated hypomorphic SI variants than the general population. The GI symptom burden was greater among the study subjects with a hypomorphic SI variant than those without hypomorphic SI variants.
Journal Title
PLoS One
Volume
15
Issue
5
Keywords
congenital sucrase-isomaltase deficiency; CSID; Gastrointestinal; idiopathic loose stools
Recommended Citation
Chumpitazi BP, Lewis J, Cooper D, et al. Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PLoS One. 2020;15(5):e0231891. Published 2020 May 20. doi:10.1371/journal.pone.0231891
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Gastroenterology Commons, Pediatrics Commons
Comments
This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Publisher's Link: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0231891