Diagnosis
To diagnose CGD, a healthcare professional will review a family and medical history and do a physical exam. There are several tests used to diagnose CGD, including:
- Neutrophil function tests. A healthcare professional may do a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell, called a neutrophil, is functioning. This test is commonly used to diagnose CGD.
- Genetic testing. A genetic test can confirm the presence of a specific genetic alteration that results in chronic granulomatous disease.
- Prenatal testing. A healthcare professional 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 avoid infections and manage the condition. Treatments may include:
- Infection management. A healthcare professional 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 happen.
- Interferon-gamma. Someone with CGD may occasionally have interferon-gamma injections, which may help boost cells in the immune system to fight infections.
- Stem cell transplantation. For some people, 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.