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Diagnosing Congenital Sucrase-Isomaltase Deficiency in Children: An Algorithm Using Combined Breath Testing.

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Summary
This summary is machine-generated.

The 13C sucrose breath test (13CSBT) and Trio-Smart breath test (BT) offer a noninvasive approach to diagnose sucrase deficiency and small intestinal bacterial overgrowth (SIBO). These tests improve diagnostic accuracy for congenital sucrase-isomaltase deficiency (CSID) and secondary causes, reducing misclassification.

Keywords:
13C sucrose breath testBreath testCongenital sucrase-isomaltase deficiencyDisaccharidasesNoninvasive diagnosticsSmall intestinal bacterial overgrowth

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Area of Science:

  • Pediatric Gastroenterology
  • Gastrointestinal Diagnostics
  • Enzyme Deficiencies

Background:

  • Disaccharidase deficiencies, like sucrase-isomaltase deficiency, cause chronic pediatric gastrointestinal issues.
  • Duodenal biopsies are standard but can be unreliable due to handling or secondary damage.
  • Noninvasive breath tests like 13C sucrose breath test (13CSBT) and Trio-Smart breath test (BT) offer alternatives for diagnosing sucrase deficiency and small intestinal bacterial overgrowth (SIBO).

Purpose of the Study:

  • To evaluate the diagnostic utility of 13CSBT and Trio-Smart BT in pediatric patients with suspected disaccharidase deficiencies.
  • To differentiate between congenital sucrase-isomaltase deficiency (CSID) and SIBO as causes of gastrointestinal symptoms.
  • To assess the clinical outcomes and treatment responses in patients evaluated with these noninvasive tests.

Main Methods:

  • Retrospective review of 25 pediatric patients with diagnosed disaccharidase deficiencies.
  • Patients underwent 13CSBT and/or Trio-Smart BT.
  • Clinical outcomes and treatment responses were analyzed post-testing.

Main Results:

  • Only 33.3% of patients with low sucrase activity showed abnormal 13CSBT results indicative of CSID.
  • 60.0% of patients tested with Trio-Smart BT showed SIBO and responded to antimicrobial treatment.
  • Two patients had abnormal results on both tests, highlighting potential overlap and complexity.

Conclusions:

  • Biopsy-based diagnosis may overestimate CSID due to secondary factors or artifacts.
  • Combined 13CSBT and Trio-Smart BT provide a noninvasive strategy to distinguish primary vs. secondary sucrase deficiency.
  • An integrated diagnostic algorithm using biopsy and breath test results can improve accuracy and reduce misclassification of CSID.