Thoracic Research and Practice
Original Article

Clinical and Radiological Aspects of Chronic Granulomatous Disease in Children: A Case Series from Iran

1.

Shiraz University of Medical Sciences, Shiraz, Iran

2.

Pediatric Pulmonary Ward, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Tehran, Iran

3.

Infectious Disease Ward, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Tehran, Iran

Thorac Res Pract 2006; 7: Turkish Respiratory Journal 78-81
Read: 561 Downloads: 351 Published: 12 October 2021

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.

Files
EISSN 2979-9139