Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience

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Excerpt

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency of innate immunity, leading to increased susceptibility to bacterial and fungal infections and to dysregulated inflammatory responses.1 The disease is caused by defects in the genes encoding any of the components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex, which is essential for intracellular killing of pathogens by phagocytes.2
Since its first report in 1954, the prognosis has dramatically changed from a disease of tragic and early complications to one of chronic management and high survival.3 In this scenario, inflammatory manifestations are becoming increasingly relevant in patient care, including CGD‐associated inflammatory bowel disease (CGD‐IBD). CGD‐IBD may have clinic and endoscopic features overlapping between Crohn's disease (CD) and ulcerative colitis (UC), but it remains a distinct entity.4
Chronic granulomatous disease is one of the monogenic disorders responsible for very‐early‐onset (VEO) IBD, in children below 6 years.5 Recent findings demonstrate the role of NADPH oxidase complex in regulating gut immunity, regardless of susceptibility to infections.7 Furthermore, additional genetic factors are determinant in CGD‐IBD development, such as common IBD risk alleles.8
Despite new insights into the pathophysiology and clinical characterization of CGD‐IBD, the management of the disease is still based on experience with polygenic conventional IBD. Nonetheless, specific features of CGD‐IBD must be considered, namely the increased risk of immunosuppressant agents, the risks of anesthesia/sedation for endoscopy procedures in patients with respiratory impairment, and the option of “definitive” therapeutic intervention with hematopoietic stem cell transplantation (HSCT).
In this study, we describe our 20 year experience in CGD‐IBD management at our pediatric tertiary care center. This report encompasses genetic, clinical, laboratory, endoscopic, and therapeutic features of a contemporary CGD‐IBD case series. Diagnostic and therapeutic implications of CGD‐IBD are extensively discussed to give a comprehensive overview of the disease and its management.

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