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Background: Chronic granulomatous disease (CGD) is a rare disorder of phagocytes in which absence of superoxide and hydrogen peroxide production in phagocytes predisposes patients to bacterial and fungal infections. The annual incidence of CGD is estimated to be 1 in 200,000-250,000 live births.
Objective: The main purpose of this study was to determine the clinical, radiological, pathological features, outcome and response to treatment in children with CGD. Methods: Thirteen patients with CGD, who were referred to the National Research Institute of Tuberculosis and Lung Disease (NRITLD) in Iran, were reviewed during a six-year period (1999-2005).
Results: There were 10 (76%) male and 3 (24%) female cases. The median age of the patients was 9.5 years. Family history of CGD was reported by 7 patients. The median diagnostic age was 6.8 years, with a diagnostic delay of 4.6 years. The most common manifestations of CGD were pulmonary infections and skin involvement, followed by generalized lymphadenopathy. Diagnosis was based on reduced nitroblue tetra- zolium test (NBT) between 0-10% in all patients and confirmed by the dihydrorhodamine (DHT) assay in 7 patients. The most common radiological findings were multiple lymphadenopathy in the mediastinal region and fibrotic changes in lung fields. Two patients died of pulmonary infections and 11 children are under observation and receiving prophylactic treatment including sulfamethoxazole-trimethoprim and itraconazole.
Conclusions: Based on the results of this research, immunologic evaluations, especially evaluation for CGD, are highly recommended in children suffering from recurrent pulmonary infections, cutaneous or hepatic abscesses, or infections caused by uncommon pathogens such as Aspergillus and granulomatous lesions not attributed to any infectious agents. Early diagnosis and prophylactic treatment both prevent further development of the lesions and irreversible complications and decrease mortality and morbidity rates in children suffering from CGD.