Diagnosis
To diagnose CGD, your health care provider will review your family and medical history and conduct a physical exam. Your provider may order several tests to diagnose CGD, including:
- Neutrophil function tests. Your provider may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell, called a neutrophil, is functioning. Providers usually use this test to diagnose CGD.
- Genetic testing. Your provider may request a genetic test to confirm the presence of a specific genetic alteration that results in chronic granulomatous disease.
- Prenatal testing. Providers may do prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.
Treatment
Treatment for CGD is aimed at helping you avoid infections and manage your condition. Treatments may include:
- Infection management. Your health care provider will work to prevent bacterial and fungal infections before they start. Treatment may include a trimethoprim and sulfamethoxazole combination (Bactrim, Sulfatrim Pediatric) or itraconazole (Sporanox, Tolsura). Additional antibiotics or antifungal medicines may be necessary should infection occur.
- Interferon-gamma. You may occasionally have interferon-gamma injections, which may help boost cells in your immune system to fight infections.
- Stem cell transplantation. In some cases, a stem cell transplant can provide a cure for CGD. Deciding to treat with stem cell transplantation depends on a number of factors, including prognosis, donor availability and personal preference.
Potential future treatments
Gene therapy is currently being explored for CGD treatment, but further research is necessary.
Researchers also are investigating repairing defective genes to treat CGD.