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Chronic Granulomatous Disease

CGD (chronic granulomatous disease) is inherited and characterized by the dysfunction of phagocytes (a type of cell in your immune system), resulting in persistent infections. According to Medline Plus, the condition affects 1 in a million people.

  1. Genetic Link

    • According to the New York Times Health Guide, approximately 50 percent of cases are linked to a recessive gene which is carried on the X chromosome.

    Symptoms

    • Patients commonly suffer from chronic or recurrent infections such as perianal or rectal abscesses, impetigo, chronic swelling in the lymph nodes located in the neck, skin abscesses and persistent pneumonia.

    Complications

    • Complications include liver enlargement, spleen enlargement, swelling of lymph nodes and possibly osteomyeltis (bone infections).

    Diagnosis/Testing

    • Bone scans, CBC (complete bone count), liver scans and nitroblue tetrazolium tests (NBT) are commonly performed. Nitroblue tetrazolium is a colorless chemical transformed to a deep blue color, confirming the disease.

    Treatment

    • Treatments for each infection are typically treated with suitable antibiotics. Doctors may also prescribe prophylactic (preventative) antibiotics to help decrease the occurrence of infections. Bone marrow transplants are the only cure for CGD.

    Prevention

    • If you have a family history of the disease and are planning to have children, genetic screening may identify the disease early and tell if you are a carrier.

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