[Congenital saccharase-isomaltase defect--diagnostic difficulties]

Area of Science:

• Pediatric Gastroenterology
• Gastrointestinal Disorders
• Enzyme Deficiencies

Context:

• Investigated 505 children via jejunal biopsy to identify disaccharidase deficiencies.
• Identified seven patients with congenital sucrase-isomaltase deficiency (CSID) and five with combined deficiencies.
• Observed an unusual pattern of more pronounced sucrase than lactase deficiency in some patients.

Purpose:

• To evaluate complications and diagnostic challenges in congenital sucrase-isomaltase deficiency.
• To propose modified diagnostic criteria for CSID to prevent misdiagnoses.
• To highlight the link between CSID, enteral infections, and post-infectious intestinal damage.

Summary:

• Congenital sucrase-isomaltase deficiency patients exhibit increased susceptibility to enteral infections and post-infectious intestinal damage.
• Complex cases, particularly those with combined deficiencies and pronounced sucrase deficiency, may not meet classic diagnostic criteria.
• A modified diagnostic approach is suggested: verifying CSID despite mild histology and hypolactasia if sucrase deficiency significantly exceeds lactase deficiency.

Impact:

• Aims to reduce diagnostic errors in congenital sucrase-isomaltase deficiency.
• Enhances understanding of CSID complications and its association with infections.
• Provides a refined diagnostic framework for pediatric gastroenterologists.