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.

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