Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations

  • Murat Cakir (Department of Pediatric Gastroenterology Hepatology and Nutrition, Faculty of Medicine, Karadeniz Technical University) ;
  • Nalan Yakici (Department of Pediatric Allergy and Immunology, Faculty of Medicine, Karadeniz Technical University) ;
  • Elif Sag (Department of Pediatric Gastroenterology Hepatology and Nutrition, Faculty of Medicine, Karadeniz Technical University) ;
  • Gulay Kaya (Department of Pediatrics, Faculty of Medicine, Karadeniz Technical University) ;
  • Aysenur Bahadir (Department of Pediatric Hematology, Faculty of Medicine, Karadeniz Technical University) ;
  • Alper Han Cebi (Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University) ;
  • Fazil Orhan (Department of Pediatric Allergy and Immunology, Faculty of Medicine, Karadeniz Technical University)
  • Received : 2022.02.28
  • Accepted : 2023.05.13
  • Published : 2023.07.15
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Abstract

Purpose: The gastrointestinal system is the most commonly affected organ, followed by the lungs, in patients with primary immunodeficiency disease (PID). Hence, it is common for children with PIDs to present with gastrointestinal symptoms. We aimed to analyze the clinical and histopathological findings of patients who were initially admitted to pediatric gastroenterology/hepatology clinics and subsequently diagnosed with PIDs to identify the clinical clues for PIDs. Methods: The demographic, laboratory, and histopathological findings, treatment modality, and outcomes of patients initially admitted to the pediatric gastroenterology/hepatology unit and subsequently diagnosed with PIDs were recorded. Results: The study included 24 patients (58.3% male; median age [range]: 29 [0.5-204] months). Common clinical presentations included chronic diarrhea (n=8), colitis (n=6), acute hepatitis (n=4), and acute liver failure (n=2). The association of autoimmune diseases, development of malignant diseases, and severe progression of viral diseases was observed in 20.8%, 8.3%, and 16.6% of the patients, respectively. Antibody deficiency was predominantly diagnosed in 29.2% of patients, combined immunodeficiency in 20.8%, immune dysregulation in 12.5%, defects in intrinsic and innate immunity in 4.2%, autoinflammatory disorders in 8.3%, and congenital defects of phagocytes in 4.2%. Five patients remained unclassified (20.8%). Conclusion: Patients with PIDs may initially experience gastrointestinal or liver problems. It is recommended that the association of autoimmune or malignant diseases or severe progression of viral diseases provide pediatric gastroenterologists some suspicion of PIDs. After screening using basic laboratory tests, genetic analysis is mandatory for a definitive diagnosis.

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References

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