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Chronic granulomatous disease of childhood: differential diagnosis and prognosis
A S Grumach1, R Bellinai-Pires, I S Araujo
1Immunopathology Unit, Instituto da Criança, Hospital das Clínicas, FMUSP, São Paulo, Brazil.
Insights
Chronic granulomatous disease (CGD) affects 10 children with primary immunodeficiency, causing recurrent infections. Laboratory tests showed impaired bacterial activity, but girls experienced a better prognosis.
Area of Science:
- Pediatrics
- Immunology
- Genetics
Background:
- Primary immunodeficiency (PID) encompasses a group of hereditary disorders.
- Phagocytic disorders represent a significant subset of PID.
- Chronic granulomatous disease (CGD) is a severe form of phagocytic disorder.
Purpose of the Study:
- To describe the clinical and laboratory characteristics of children diagnosed with CGD.
- To analyze the presentation and outcomes of CGD in pediatric patients.
- To investigate potential differences in disease progression between genders.
Main Methods:
- Retrospective analysis of medical records of children with PID.
- Diagnosis of CGD based on clinical presentation and laboratory tests, including Nitro blue tetrazolium (NBT) reduction assay.
- Evaluation of infection history, clinical findings, and laboratory parameters.
Main Results:
- Out of 111 children with PID, 20 had phagocytic disorders, with 10 diagnosed with CGD (8% of PID cases).
- CGD patients presented with recurrent infections from early infancy, including abscesses, otitis, pneumonia, lymphadenitis, pyodermitis, and septicemia.
- NBT reduction was nearly absent in all CGD patients, indicating severely impaired phagocyte function. Bactericidal activity against Staphylococcus aureus and phagocytosis were also impaired. Female patients showed a better clinical evolution.
Conclusions:
- CGD is a serious condition within primary immunodeficiencies, characterized by recurrent infections and impaired neutrophil function.
- Early diagnosis and appropriate management are crucial for improving outcomes in CGD patients.
- The study suggests a potentially better prognosis for female CGD patients compared to males.
Abstract:
Of a total of 111 children with primary immunodeficiency, 20 had phagocytic disorders (18%) and 10 of them (8 boys and 2 girls) were diagnosed as chronic granulomatous disease (CGD). The children presented with repeated infections already during the first months of life. The main clinical findings were: abscess (n = 8), otitis (n = 8), pneumonia (n = 8), lymphadenitis and pyodermitis (n = 6) and septicemia (4), NBT reduction was almost absent in all the children, except one of them. Bactericidal activity against S. aureus and phagocytosis were impaired in CGD patients. Different patterns of laboratory tests and prognosis were observed and girls had a better evolution.