Overview
Diagnosis
To diagnose chronic granulomatous disease (CGD), a healthcare professional will review your medical and family history and perform a physical examination. Several tests are used to confirm the diagnosis, including:
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Neutrophil function tests: The dihydrorhodamine 123 (DHR) test or similar tests measure how well neutrophils, a type of white blood cell, are functioning. This is the most common test used to diagnose CGD.
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Genetic testing: A genetic test can identify specific mutations responsible for CGD, confirming the diagnosis.
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Prenatal testing: If a child in the family has already been diagnosed with CGD, prenatal testing may be offered to check for the condition during pregnancy.
Treatment
Treatment for CGD focuses on preventing infections and managing the condition to maintain health and quality of life.
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Infection management: Preventive antibiotics and antifungal medicines help reduce the risk of infections. Common options include trimethoprim-sulfamethoxazole and itraconazole. If an infection occurs, additional medicines may be prescribed based on the type and severity of infection.
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Interferon-gamma therapy: Some people with CGD receive interferon-gamma injections, which can help strengthen the immune system’s ability to fight infections.
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Stem cell transplantation: In select cases, a stem cell transplant can cure CGD. The decision depends on factors such as overall health, donor availability, and personal preferences.
Potential future treatments
Researchers are exploring gene therapy as a possible treatment for CGD. This approach aims to repair or replace defective genes to restore normal immune function, but more research is needed before it becomes widely available.
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