Chronic granulomatous disease is a potentially fatal genetic disorder that affects the body's ability to fight off bacterial and fungal infections. Specialized white blood cells called phagocytes lack an important enzyme that is needed to break down and destroy pathogens. As a result, infants and children with the disorder often suffer frequent bouts of pneumonia, digestive problems, and skin infections. Treatment usually involves daily antibiotics to combat existing infections and help prevent new ones from arising. There is no clear cure for chronic granulomatous disease, but bone marrow transplantation has proven effective at restoring healthy phagocytes and boosting immune system functioning in many patients.
When healthy phagocytes confront bacteria or fungi, they essentially ingest the pathogens and break them down with the help of superoxide anions. In the case of chronic granulomatous disease, the enzyme needed to release the anions is either absent or defective. Phagocytes are rendered useless and infectious bacteria and fungi thrive. Medical research has shown that chronic granulomatous disease results from genetic defects on x-linked chromosomes. Males are much more likely to develop the condition than females, and the first symptoms are likely to arise in infancy or very early childhood.
A child who has chronic granulomatous disease is highly susceptible to a number of different infections, especially those that affect the lungs, skin, and gastrointestinal tract. Bacterial pneumonia is one of the most common types of recurring infection, though other chronic respiratory diseases may also arise. Frequent diarrhea, nausea, and vomiting can occur, as well as chronic lymph node swelling in the groin and neck. Abscesses may develop in the rectum, lungs, liver, or spleen that harbor bacteria and cause recurring problems.
Blood tests are the most effective means of diagnosing chronic granulomatous disease. Specialists can screen samples for abnormal phagocytic enzymes and other telling factors. A doctor may also collect tissue samples and take x-rays to see if internal organs have been severely damaged by recurring infections.
Patients who have active pneumonia or other types of infections are given intravenous or oral antibiotics right away. A child may need to stay in the hospital for several days or weeks so doctors can monitor the effectiveness of medical therapy. Prophylactic antibiotics and antifungals are commonly prescribed to help prevent future infections. If a person's symptoms are severe and do not resolve despite medical care, a bone marrow transplant may be scheduled. Each patient's outlook is different, but careful monitoring and supportive treatment allow many people to survive into adulthood.