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[Chronic septic granulomatous disease. 14 cases]
M R Barbouche1, R Sghiri, F Mellouli
1Institut Pasteur de Tunis, Tunisie.
Insights
Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency causing recurrent infections in children. Early diagnosis and prophylactic antibiotics significantly improve the prognosis for affected individuals.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Context:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder.
- Characterized by recurrent, severe bacterial and fungal infections.
- Often presents in early childhood, predominantly affecting males.
Purpose:
- To report 14 cases of CGD in Tunisian children, including 5 girls.
- To describe the clinical features, diagnosis, and outcomes.
- To highlight the importance of early diagnosis and management.
Summary:
- A retrospective study of 14 Tunisian children (9 boys, 5 girls) with CGD diagnosed between 1988 and 1998.
- Consanguinity was noted in 75% of families, with early childhood deaths in 6 families.
- Common manifestations included lung, nodal, skin, and intestinal infections, with a high incidence of invasive pulmonary aspergillosis. The mortality rate was 42.8%.
Impact:
- This study underscores the significant clinical burden of CGD in the Tunisian pediatric population.
- Highlights the need for increased awareness and early diagnostic interventions.
- Suggests improved outcomes with prophylactic antibiotics and timely management.
Objectives:
Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency. Affected children are mostly boys. The most common clinical features are recurrent bacterial and fungal infections starting at early childhood. We report 14 cases, including 5 girls, of CGD in Tunisian children.
Patients And Methods:
This retrospective study concerned 14 clinical observations of CGD recorded between April 1988 and December 1998. The diagnosis was established upon determination of a defective respiratory burst in the patients' neutrophils at the tetrazolium nitroblue test (NBT). In 4 cases, the diagnosis was also confirmed by chemiluminescence assay.
Results:
The patients (9 boys and 5 girls) belonged to 12 families, 75% of which were consanguineous. In 6 families, there had been several deaths in early childhood. The mean age at onset of clinical signs was 6.8 months (7 days to 24 months). Clinical signs included lung (10 cases), nodal (8 cases), skin (7 cases), and intestinal (7 cases) infections. Seven patients developed invasive pulmonary aspergillosis with parietal extension in 4 cases. Salmonella and Staphylococcus infections were rare in our series. Six children (42.8%) including 2 girls, died. Aspergillosis was fatal in 4 cases.
Conclusion:
Recurrent infections are the main clinical fetus of chronic granulomatous disease. Prognosis has been improved by the use of prophylactic antibiotics. Early diagnosis of the disease is crucial.