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Chronic granulomatous disease: a case report
1Department of Pediatrics, Chang Gung Children's Hospital, Taipei, Taiwan, R.O.C.
Abstract:
Chronic granulomatous disease is an uncommon inherited disease with presentations of frequent pyogenic and fungal infections. In this disease, the phagocytes ingest pathogens, but the ingested microorganisms can not be killed because the cells lack the ability to convert oxygen into superoxide using the enzyme known as NADPH oxidase. We report on a patient who had experienced frequent lymphadenopathy and bacterial infections since childhood. In addition to his history of repeated bacterial infections, diagnosis was also based on abnormal findings in immunologic tests including the nitroblue tetrazolium test assay, analysis of chemiluminescence and detection of hydrogen peroxide using flow cytometry. He received prophylactic treatment with antibiotics, and the condition remained stable during a six-month follow-up period.
Insights
Chronic granulomatous disease (CGD) is an inherited immune disorder where phagocytes cannot kill ingested pathogens due to absent NADPH oxidase function. This case highlights diagnosis and stable management with prophylactic antibiotics.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- Chronic granulomatous disease (CGD) is a rare inherited disorder characterized by recurrent pyogenic and fungal infections.
- It results from a defect in the NADPH oxidase enzyme complex, impairing the respiratory burst and microbial killing by phagocytes.
Observation:
- This report details a patient with a history of childhood lymphadenopathy and recurrent bacterial infections.
- The patient presented with a clinical history suggestive of CGD.
Findings:
- Immunologic testing, including the nitroblue tetrazolium test, chemiluminescence analysis, and flow cytometry for hydrogen peroxide detection, confirmed the diagnosis.
- Diagnostic confirmation relied on a combination of clinical presentation and specific immunologic assays.
Implications:
- Early diagnosis and management of CGD are crucial for preventing severe infections.
- Prophylactic antibiotic treatment can stabilize the condition and improve patient outcomes.
- This case underscores the importance of comprehensive immunologic evaluation in patients with recurrent infections.