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Chronic granulomatous disease in adults
J G Liese1, V Jendrossek, A Jansson
1Universitäts-Kinderklinik München, Germany.
Lancet (London, England)
|January 27, 1996
Summary
Late diagnosis of Chronic Granulomatous Disease (CGD) is possible in adults, presenting with infections and granulomas. Early exclusion of CGD is crucial for timely treatment and management.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Chronic Granulomatous Disease (CGD) is an inherited immune disorder affecting granulocyte function.
- Typically presents in early childhood with severe recurrent infections.
Purpose of the Study:
- To investigate clinical and laboratory features of CGD patients with unusually late diagnoses.
- To assess the prevalence and characteristics of adult-onset CGD.
Main Methods:
- Retrospective review of 11 CGD patients diagnosed between 13-43 years of age from two children's hospitals.
- Examination of clinical manifestations, infection history, and genetic subtypes.
Main Results:
- Median age at first symptom was 3.6 years, but diagnosis was delayed until a median of 22 years.
- Common infections included Staphylococcus aureus and Aspergillus; 7 patients developed granulomas.
- Lower frequency of severe infections noted compared to classic CGD, potentially due to residual reactive oxygen metabolite production in 9 patients.
Conclusions:
- Adult-onset CGD may be more prevalent than previously thought.
- CGD should be considered in adults with unexplained infections or granulomas for timely intervention.
- Genetic counseling is important for affected families.