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Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations
Murat Cakir1, Nalan Yakici2, Elif Sag1
1Department of Pediatric Gastroenterology Hepatology and Nutrition, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Insights
Pediatric patients with primary immunodeficiency diseases (PIDs) often present with gastrointestinal issues. Recognizing these symptoms and associated conditions can aid in early PID diagnosis.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Hepatology
Background:
- Primary immunodeficiency diseases (PIDs) frequently affect the gastrointestinal system and lungs.
- Gastrointestinal symptoms are common initial presentations in children with PIDs.
- Early identification of PIDs is crucial for timely intervention and management.
Purpose of the Study:
- To analyze clinical and histopathological findings in pediatric patients initially seen in gastroenterology/hepatology clinics.
- To identify key clinical indicators for diagnosing PIDs in this patient cohort.
- To improve the diagnostic pathway for PIDs presenting with gastrointestinal manifestations.
Main Methods:
- Retrospective analysis of demographic, laboratory, and histopathological data.
- Inclusion of patients initially admitted to pediatric gastroenterology/hepatology units and later diagnosed with PIDs.
- Recording of treatment modalities and patient outcomes.
Main Results:
- Twenty-four patients were included, with antibody deficiency being the most common diagnosis (29.2%).
- Common presentations included chronic diarrhea, colitis, acute hepatitis, and acute liver failure.
- Associations with autoimmune diseases (20.8%), malignancies (8.3%), and severe viral infections (16.6%) were noted.
Conclusions:
- Gastrointestinal and liver problems can be early signs of PIDs in children.
- Suspicion of PIDs should be raised in cases of autoimmune diseases, malignancies, or severe viral infections.
- Definitive PID diagnosis requires genetic analysis following initial laboratory screening.
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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