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Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2025, Number 1

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Alerg Asma Inmunol Pediatr 2025; 34 (1)

Gastrointestinal manifestations in a cohort of patients with chronic granulomatous disease at the National Institute of Pediatrics

Onuma ZH, Pérez BU, Yamazaki-Nakashimada MA, Espinosa PS, Blancas GL

Language: Spanish
References: 21
Page: 12-18
PDF size: 335.61 Kb.


ABSTRACT

Introduction: chronic granulomatous disease (CGD) is an inborn error of immunity innate characterized by a defect at the NADPH oxidase complex, leading to increased susceptibility to bacterial and fungal infections, along with significant inflammatory manifestations, particularly in the gastrointestinal tract. Objective: this study aims to detail the type and frequency of gastrointestinal manifestations in pediatric patients with CGD at a tertiary care hospital. Material and methods: we included Mexican patients with CGD who were monitored at National Institute of Pediatrics and conducted a descriptive analysis of relevant variables. Results: a total of 52 patients with CGD were identified, comprising 42 males (80.8%), with 35 (67.3%) exhibiting X-linked inheritance. The median age at diagnosis was 54 months. Gastrointestinal symptoms were noted in 45 patients (86.5%), including abdominal pain (53.8%), chronic diarrhea (46.2%), and vomiting (42.3%) as the most prevalent. Additional findings included constipation (21.2%), intestinal obstruction (2.1%), and perianal conditions (17.5%). Patients with pathogenic variants in CYBB gene experienced more than four gastrointestinal symptoms (n=15; 28.8%). Among the six patients who underwent gastrointestinal endoscopy, none were diagnosed with inflammatory bowel disease (IBD) through histopathological evaluation. Conclusion: the study revealed that gastrointestinal manifestations are frequent in CGD Mexican patients and there is a lower percentage of IBD compared to the international literature. Recognizing these symptoms is crucial for prompt diagnosis and treatment.


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