Chronic granulomatous disease (CGD)

Diagnosis  

The diagnosis of CGD involves performing a physical exam, assessing one’s medical and family history, and conducting several tests.  

Necessary tests may include:  

• Blood test: Blood tests, including specialist tests known as dihydrorhodamine 123 (DHR) or nitroblue tetrazolium, which add chemicals to a blood sample and analyze white blood cells’ ability to produce reactive oxygen species may be required.  
• Genetic testing: A healthcare provider examines a blood or tissue sample to find a defective gene that causes CGD. Genetic tests are used to confirm the existence of a specific genetic change that causes chronic granulomatous illness.  
• Prenatal testing: If one of the children has already been diagnosed with CGD (chronic granulomatous disease), healthcare providers might perform prenatal testing to diagnose CGD during pregnancy. 

Treatment  

The treatment for CGD aims to prevent infections and effectively manage the condition. The following approaches are typically employed: 

• Infection Prevention: Healthcare providers focus on proactively preventing bacterial and fungal infections. This can involve using a combination of trimethoprim and sulfamethoxazole or itraconazole. If infections occur, additional antibiotics or antifungal medications might be required. 
• Interferon–Gamma: Periodic interferon–gamma injections might be administered to enhance the immune system’s ability to combat infections.
• Stem Cell Transplantation: Depending on factors such as prognosis, availability of a donor, and individual preferences, a stem cell transplant can potentially offer a cure for CGD. This option is considered in select cases.