Chronic granulomatous disease
Chronic granulomatous disease is an inherited disorder in which certain immune system cells do not function properly. This leads to ongoing and severe infection.
Causes of Chronic granulomatous disease
In chronic granulomatous disease (CGD), immune system cells called phagocytes are unable to kill some types of bacteria and fungi. This disorder leads to long-term (chronic) and repeated (recurrent) infections. The condition is often discovered very early in childhood. Milder forms may be diagnosed during the teenage years or even in adulthood.
Risk factors include a family history of recurrent or chronic infections.
About half of CGD cases are passed down through families as a recessive, sex-linked trait. This means that boys are more likely to get the disorder than girls. The defective gene is carried on the X chromosome. Boys have 1 X and 1 Y chromosome. If a boy has an X chromosome with the defective gene, he may inherit this condition. Girls have 2 X chromosomes. If a girl has 1 X chromosome with the defective gene, the other X chromosome may have a working gene to make up for it. A girl has to inherit the defective gene from both parents in order to have the disease.
Chronic granulomatous disease Symptoms
CGD can cause many types of skin infections that are hard to treat, including:
- Blisters or sores on the face (impetigo)
- Growths filled with pus (abscesses)
- Pus-filled lumps in the skin (boils)
CGD can also cause:
- Persistent diarrhea
- Swollen lymph nodes in the neck
Tests and Exams
Your health care provider will examine you and may find:
- Liver swelling
- Spleen swelling
- Swollen lymph nodes
There may be signs of a bone infection, which may affect multiple bones.
Tests that may be done include:
- Bone scan
- Chest x-ray
- Complete blood count (CBC)
- Flow cytometry tests to help confirm the disease
- Nitroblue tetrazolium test (NBT) to help diagnose the disease and find out whether the mother is a carrier
- Genetic testing to confirm the diagnosis
- Tissue biopsy
Treatment of Chronic granulomatous disease
Antibiotics are used to treat the disease and may also be used to prevent infections. A medicine called interferon-gamma may also help reduce the number of severe infections. Surgery may be needed to treat some abscesses.
The only cure for chronic granulomatous disease is a bone marrow or stem cell transplant.
Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections.
CGD may cause these complications:
- Bone damage and infections
- Chronic infections in the nose
- Pneumonia that keeps coming back and is hard to cure
- Lung damage
- Skin damage
- Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them
When to Contact a Health Professional
If you or your child has this condition and you suspect pneumonia or another infection, call your health care provider immediately.
Tell your provider if a lung, skin, or other infection does not respond to treatment.
Prevention of Chronic granulomatous disease
Genetic counseling is recommended if you are planning to have children and you have a family history of this disease. Advances in genetic screening and increasing use of chorionic villus sampling (a test that may be done during a woman's 10th to 12th week of pregnancy) have made early detection of CGD possible. However, these practices are not yet widespread or fully accepted.
Boxer LA, Newburger PE. Disorders of phagocyte function. In: Kliegman RM, Stanton BF, St. Geme JW III, et al, eds. Nelson Textbook of Pediatrics. 19th Ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 124.
Glogauer M. Disorders of phagocyte function. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 172.
|Review Date: 12/7/2014
Reviewed By: Jatin M. Vyas, MD, PhD, Associate Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital, Boston, MA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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