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Chronic granulomatous disease--a report in two Malay families
1Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur.
Abstract:
Chronic granulomatous disease (CGD) is a very rare disease whose defect lies in an abnormal intracellular killing resulting in recurrent abscesses, lymphadenitis and granuloma formation. We describe 2 Malay male infants with CGD whom we believe to be the first report of this disorder in Malays. Both children presented with recurrent abscesses, pneumoniae and hepatosplenomegaly; lymphadenopathy was also present in one of the patients. The organisms isolated were catalase positive bacteria. Both neutrophil chemiluminescence (against fungal and bacterial antigens, phorbol myristate acetate) and intracellular killing assays were severely depressed. Recognition of CGD is important as great strides have been made in the treatment of this disease which include gamma interferon therapy besides the conventional prophylactic antibacterial therapy.
Insights
Chronic granulomatous disease (CGD) is a rare genetic disorder affecting immune cells. This study reports the first cases in Malay infants, highlighting diagnostic and treatment advancements.
Area of Science:
- Immunology
- Pediatrics
- Genetics
Background:
- Chronic granulomatous disease (CGD) is a rare primary immunodeficiency characterized by impaired phagocyte function.
- It leads to recurrent infections and inflammatory complications like abscesses and granulomas.
Observation:
- This study details two Malay male infants diagnosed with CGD.
- Clinical presentations included recurrent abscesses, pneumonia, hepatosplenomegaly, and lymphadenopathy.
- Infections involved catalase-positive bacteria.
Findings:
- Neutrophil chemiluminescence and intracellular killing assays were severely depressed in both patients.
- This confirms a defect in phagocyte oxidative burst capacity.
Implications:
- Early recognition of CGD is crucial for timely intervention.
- Treatment options have advanced, including gamma interferon therapy alongside prophylactic antibiotics.