Description

Chronic granulomatous (gran-u-LOM-uh-tus), the disease (CGD) is a genetic condition in which infection-fighting white blood cells do not function correctly. These white blood cells are called phagocytes. When phagocytes do not work as they should, they can't protect the body from bacterial and fungal infections.

People with chronic granulomatous disease may develop infections in the lungs, skin, lymph nodes, the liver, the stomach and intestines, or other areas. You can also create groups of white blood cells in the infected areas. Chronic granulomatous disease is an inherited disease, which means that it runs in families. Most of the people are diagnosed with chronic granulomatous disease of childhood, but some people may not be diagnosed until adulthood.

Symptoms

People with chronic granulomatous disease to get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with chronic granulomatous disease may develop a severe form of fungal pneumonia after being exposed to the dried leaves, straw or hay.

It is also common for people with CGD to the experience of the infections of the skin, the liver, the stomach and the intestines, brain, and eyes. The symptoms that can occur with infections include:

  • Fever.
  • Pain in the chest when you inhale or exhale.
  • Swelling and pain in the lymph nodes.
  • A continuous drip from the nose.
  • Irritation of the skin that may include a rash, swelling, or redness.
  • The swelling and redness of the mouth.
  • Difficulty swallowing.
  • Gastrointestinal problems may include:
  • Vomiting.
  • The diarrhea.
  • Stomach pain.
  • Stools with blood.
  • A painful pocket of pus near the anus, called an abscess.
  • Vomiting.
  • The diarrhea.
  • Stomach pain.
  • Stools with blood.
  • A painful pocket of pus near the anus, called an abscess.

When to see a doctor

If you think that you or your child has a type of fungal pneumonia to be around in the dry leaves, straw or hay, get immediate medical attention. If you or your child has, often, the infections and the symptoms listed above, talk to a health professional.

Causes

A change in one of five genes that can cause chronic granulomatous disease. People with CGD inherit the mutated gene from a parent. These genes produce proteins that form an enzyme. This enzyme helps your immune system to function properly. The enzyme is active in white blood cells, called phagocytes, which help protect them from infections by the destruction of fungi and bacteria. The enzyme is also activated in immune cells that help your body heal.

When there are changes in one of these genes, the protective proteins are not produced. Or are produced, but they do not work correctly.

Some people with CGD does not have one of these mutated genes. In these cases, the medical professionals do not know what causes the condition.

Risk factors

Children are more likely to have chronic granulomatous disease.

Diagnosis

For the diagnosis of chronic granulomatous disease, a health professional will review your family and medical history and a physical examination. There are several tests used to diagnose chronic granulomatous disease, including:

  • Neutrophil function tests. A health professional can make a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell called neutrophils, is working. This test is commonly used to diagnose chronic granulomatous disease.
  • The genetic testing. A genetic test can confirm the presence of a particular genetic disorder that results in chronic granulomatous disease.
  • Prenatal testing. A health professional can make a prenatal test to diagnose CGD if one of their children who have already been diagnosed with chronic granulomatous disease.

Treatment

The treatment for CGD is intended to help prevent infections and treat the disease. Treatments may include:

  • The management of the infection. A healthcare professional will work to prevent bacterial and fungal infections before they start. The treatment may include a trimethoprim and sulfamethoxazole combination (Bactrim sulfamethoxazole) or itraconazole (Sporanox, Tolsura). Additional antibiotics or antifungal medications may be necessary if the infection to occur.
  • The interferon-gamma. Someone with CGD may occasionally have the interferon-gamma injections, which can help to stimulate the cells in the immune system to fight infections.
  • The transplantation of stem cells. For some people, a stem cell transplantation can provide a cure for chronic granulomatous disease. Decide the treatment with stem cell transplantation depends on a number of factors, including the forecast, the availability of donors and the personal preference.

Potential future treatments

Gene therapy is being explored by CGD treatment, but more research is needed.

The researchers are also investigating the repair of defective genes for the treatment of chronic granulomatous disease.

Symptoms and treatment of Chronic granulomatous disease