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Chronic granulomatous disease masquerading as a bladder tumor: a potential source of diagnostic error
M L Bendhack1, T Vögeli, H Schroten
1Department of Urology, School of Medicine, Heinrich Heine University, Düsseldorf, Germany.
Abstract:
Chronic granulomatous disease (CGD) is a rare inherited disease of childhood, characterized by recurrent bacterial or fungal infections. The underlying defect is a dysfunction of neutrophil granulocytes interfering with their ability to kill phagocytosed microorganisms. Genitourinary tract involvement has been reported in 38% of these patients. We report a case of CGD in whom the most important findings were urinary bladder tumors at different locations and a subsequent obstruction of the left ureter. A review of the pathogenesis of the disease, potential involvement of the urinary tract and treatment is presented.
Insights
Chronic granulomatous disease (CGD) can affect the genitourinary tract. This case highlights CGD presenting with bladder tumors and ureter obstruction, emphasizing the need for awareness of urinary complications.
Area of Science:
- Immunology
- Pediatrics
- Urology
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder.
- It is characterized by impaired neutrophil function, leading to recurrent infections.
- Genitourinary tract involvement occurs in a significant percentage of CGD patients.
Observation:
- A pediatric patient with CGD presented with unusual genitourinary findings.
- The primary manifestations included multiple urinary bladder tumors.
- Left ureter obstruction was a subsequent complication.
Findings:
- The case demonstrates a rare presentation of CGD with significant urinary tract pathology.
- Urinary bladder tumors and ureteral obstruction were the most prominent clinical features.
- This presentation underscores the potential for severe GU complications in CGD.
Implications:
- Early recognition of genitourinary manifestations in CGD is crucial for timely intervention.
- This case expands the understanding of CGD's diverse clinical spectrum.
- Further research into the pathogenesis of GU involvement in CGD may improve patient outcomes.