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Published on: December 15, 2011
Specific autoantibodies to gut epithelium in two infants with severe protracted diarrhoea
Insights
Infants with severe protracted diarrhea may have an autoimmune enteropathy. Autoantibody testing is recommended for early diagnosis and management of unexplained infant diarrhea.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Autoimmune Diseases
Background:
- Protracted diarrhea in infants is a challenging clinical problem.
- Identifying the underlying cause is crucial for effective management.
- Autoimmune processes are increasingly recognized in pediatric gastrointestinal disorders.
Observation:
- Two male infants presented with severe protracted diarrhea.
- Jejunal biopsies revealed subtotal villous atrophy in both infants.
- Both infants exhibited specific autoantibodies targeting human intestinal epithelium.
Findings:
- Patient 1 had IgG autoantibodies, hypothyroidism, and type 1 diabetes, with a fatal outcome.
- Patient 2 had IgM autoantibodies that resolved with spontaneous diarrhea recovery.
- The presence of gut autoantibodies suggests an autoimmune basis for the enteropathy.
Implications:
- Autoantibody testing should be considered in infants with unexplained protracted diarrhea.
- Early detection of autoimmune enteropathy can guide therapeutic strategies.
- This study highlights the role of autoimmunity in severe infant diarrhea.
Abstract:
Two male infants with severe protracted diarrhoea presenting at 4 months (patient 1) and 10 weeks (patient 2) of age are reported. In both patients jejunal biopsy showed subtotal villous atrophy. Both had specific complement-fixing autoantibodies reacting by immunofluorescence with human duodenal, jejunal, and colonic epithelium. Patient 1 also had hypothyroidism and type 1 diabetes mellitus with thyroid and islet cell autoantibodies. His gut antibodies were of IgG class, reached a titre of 1:512, and remained positive throughout his illness. He died at 16 months of age. Patient 2 had gut antibodies of IgM class, which reached a titre of 1:128 and disappeared at the time of spontaneous recovery of the diarrhoea. The findings suggest that an autoimmune process was the basis for the enteropathy in these patients. We recommend that autoantibody tests should be performed in infants with unexplained protracted diarrhoea.
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