Definition of Chronic granulomatous disease:

Chronic granulomatous disease is an inherited disorder in which immune system cells called phagocytes do not function properly. This leads to ongoing and severe infection.

Causes, incidence, and risk factors:

Chronic granulomatous disease (CGD) is a genetic disorder in which certain immune system cells are unable to kill some types of bacteria and fungi. The disorder leads to long term (chronic) and repeated (recurrent) infections. The condition is often discovered in very early childhood. Milder forms may be diagnosed during the teen years or even in adulthood.

Impetigo, skin abscesses and furuncles, and perianal and rectal abscesses are common in people with this disorder. Pneumonia that keeps coming back, and is caused by bacteria not typical of most pneumonias, is a significant problem. Chronic swelling of the lymph nodes in the neck, with the formation of abscesses, is common.

Risk factors include a family history of recurrent or chronic infections.

About half of CGD cases are transmitted as a recessive, sex-linked trait. This means that boys are more likely to inherit the disorder than are girls. Boys have an X and a Y chromosome. Girls have two X chromosomes. The defective gene is carried on the X chromosome. So, if a girl has one 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.

About 1 in a million people have CGD.

Symptoms:

• Bone infections
• Frequent and difficult-to-clear skin infections
  • Abscesses
  • Chronic infection inside the nose
  • Furuncles
  • Impetiginized eczema (eczema complicated by an infection)
  • Impetigo
  • Perianal abscesses (abscesses around the anus)
• Joint infections
• Persistent diarrhea
• Pneumonia
  • Occurs frequently
  • Difficult to cure
• Swollen lymph nodes in the neck; those develop early in life, and stay swollen or occur frequently. The lymph nodes may form abscesses that require surgical drainage.

Signs and tests:

Physical examination may show an enlarged liver (hepatomegaly), enlarged spleen (splenomegaly), and swelling of multiple lymph nodes all over the body (generalized adenopathy). There may be signs of a bone infection (osteomyelitis ), sometimes affecting multiple bones.

A tissue biopsy may show granulomas (groups of abnormal phagocytes).

Other tests may include:

• Bone scan
• Chest x-ray
• Complete blood count (CBC)
• Flow cytometry tests
• Nitroblue tetrazolium test (NBT) to confirm the disease and detect that the mother is a carrier

Treatment:

Acute infections should be treated aggressively with appropriate antibiotics. Antibiotics may also be prescribed to prevent infection (prophylactically). These are taken on a daily basis to try to decrease the frequency of infection. Interferon-gamma may also be helpful in reducing the number of severe infections. When abscesses form, if possible they should be treated by a surgeon

The only cure for chronic granulomatous disease is a bone marrow transplant.

Expectations (prognosis):

Long-term antibiotic treatments may help to reduce infections, but early death is typically a result of repeated lung infections.

Complications:

• Bone damage
• Chronic pneumonia
• Lung damage
• Skin damage

Calling your health care provider:

If you or your child have this condition and you suspect pneumonia or other infection, call your health care provider immediately.

Notify your health care provider if a lung, skin, or other infection does not respond to treatment.

Prevention:

Genetic counseling is recommended if you are planning to have children and have a family history of chronic granulomatous disease. Advances in genetic screening, and increasing use of chorionic villus sampling, have made early recognition of CGD possible. However, the practice is not yet widespread or fully accepted. There are tests available to identify if you are a female carrier of the disease.