Chronic Granulomatous Disease (Pediatric)

What is chronic granulomatous disease?

Chronic granulomatous disease is a genetic condition that causes a defect in immune cells called phagocytes that are important to fighting infections. Patients suffer from more infections and do not make hydrogen peroxide and other chemicals needed to kill certain bacteria and molds. As a result, they develop more infections and excessive inflammation, even in the absence of infection, causing diarrhea, intestinal obstruction, and kidney and bladder problems.

How is chronic granulomatous disease diagnosed?

This condition is often diagnosed during early childhood before age 5. Patients have recurrent infections, often from normally nondisease-causing bacteria. The diagnostic tests include neutrophil oxidative burst assay and genetic testing.

What is the treatment for chronic granulomatous disease?

Treatment involves prophylactic antibiotics to prevent staphylococcal and fungal infections, and prompt prescription of antibiotics to treat infections.

Administration of interferon gamma and bone marrow transplantation may be needed in severe cases.