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Gastrointestinal Manifestations in Children with Primary Immunodeficiencies: Single Center: 12 Years Experience

Bilge S Akkelle1, Engin Tutar1, Burcu Volkan1

  • 1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Marmara University School of Medicine, Istanbul, Turkey.

Digestive Diseases (Basel, Switzerland)
|August 29, 2018
PubMed

Insights

Gastrointestinal issues are common in primary immune deficiencies (PID). Early investigation of immunodeficiency in children with unusual GI symptoms can improve treatment and quality of life.

Area of Science:

  • Pediatric Gastroenterology
  • Immunology
  • Clinical Medicine

Background:

  • Gastrointestinal (GI) manifestations affect 5-50% of patients with primary immune deficiencies (PID).
  • Understanding these GI issues is crucial for managing pediatric PID.
  • Early diagnosis of PID-related GI problems can prevent severe complications.

Purpose of the Study:

  • To analyze GI and related endoscopic and histopathological findings in children diagnosed with PID.
  • To identify common GI symptoms and underlying causes in pediatric PID patients.
  • To evaluate the diagnostic yield of endoscopic procedures in this population.

Main Methods:

  • Retrospective analysis of pediatric PID patients undergoing endoscopy between 2005 and 2016.
  • Collection of demographic data, growth parameters, and clinical signs/symptoms at diagnosis.
  • Review of endoscopic and histopathological findings, including infectious agents and mucosal abnormalities.

Main Results:

  • Of 425 children with PID, 195 had GI manifestations; 47 underwent endoscopy.
  • Chronic diarrhea was the most frequent symptom (57.4%); 72% were malnourished.
  • Infectious causes (Giardia, H. pylori), villous blunting, and IBD-like colitis were observed.

Conclusions:

  • Primary immune deficiencies (PID) frequently present with or develop GI manifestations.
  • Investigating immunodeficiency in children with atypical GI symptoms is vital.
  • Prompt diagnosis and management can lead to better therapeutic options and improved quality of life, especially in high-consanguinity populations.
Abstract

Keywords:
ChildEndoscopyGutHistopathologyPrimary immunodeficiency

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