What is Chronic Granulomatous Disease?

People with chronic granulomatous disease can develop infections in the lungs, skin, lymph nodes, liver, stomach, intestines, and other areas. It is also possible to develop multiple granulomatous lesions in infected areas. Most people are diagnosed with CGD in childhood, but some people may not be diagnosed until adulthood.

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What is Chronic Granulomatous Disease?

Chronic granulomatous disease (CGD) is a genetic disorder that occurs when one type of white blood cell doesn't work properly. White blood cell activity is one of the body's defenses against infection. Therefore, when infected with this disease, white blood cells cannot protect the body from bacterial and fungal infections.

What is Chronic Granulomatous Disease?

White blood cells in the blood

Symptoms of Chronic Granulomatosis

Patients with chronic granulomatosis often begin with recurrent infections during childhood. But in some patients, onset is delayed until early adolescence. People with chronic granulomatous disease experience serious bacterial or fungal infections. Infections in the lungs, including pneumonia, are common. People with CGD can develop a serious type of pneumonia after coming into contact with dead leaves, mulch, or hay.

People with chronic granulomas also often experience infections of the skin, liver, stomach and intestines, brain, and eyes. Signs and symptoms associated with infection include:

  • Fever
  • Chest pain when inhaling or exhaling
  • Swollen and painful lymph glands
  • Persistent runny nose
  • Skin irritation may include rash, swelling, or redness
  • Swelling and redness in the mouth
  • Gastrointestinal problems may include vomiting, diarrhea, abdominal pain, bloody stools, or painful pockets of pus near the anus.

What is the cause of the disease?

A mutation in one of five genes can cause chronic granulomatosis. People with CGD have inherited a genetic mutation from their parents. Genes that normally produce proteins form enzymes that help the immune system function properly. Enzymes work in white blood cells that help capture and destroy fungi and bacteria to protect you from infection. Enzymes also work in immune cells to help your body recover.

When there is a mutation in one of these genes, the protective proteins are either not made or they are made but they don't work properly.

Some people with chronic granulomatosis do not have one of these gene mutations. In such cases, we often cannot find the cause of the condition.

Risk factors for chronic granulomatous disease

Boys are more likely to have chronic granulomatosis.

Diagnosis of chronic granulomatous disease

To diagnose CGD, your doctor will review your family and medical history. Then do a thorough examination. Some tests to diagnose chronic granulomatous include:

  • Neutrophil function test . Check for dihydrorhodamine 123 (DHR) or other tests to see if the type of white blood cell in your blood is working properly. This test is commonly used to diagnose chronic granulomas.
  • Genetic testing . To confirm the presence of a specific gene mutation predisposing to chronic granulomatous disease.
  • Prenatal tests . To diagnose fetal CGD if one of your children has been diagnosed with CGD.

Treatment

Treatment for CGD is aimed at helping you avoid infection and keep the condition under control. Treatments may include:

  • Infection management . Prevent bacterial and fungal infections before they happen. Treatment may include ongoing antibiotic therapy. To protect against infections caused by antifungal bacteria to prevent fungal infections. Additional antibiotics or other antifungals may be needed if an infection occurs.
  • Interferon gamma . Periodic injections of interferon-gamma help strengthen cells in the immune system to fight infection.
  • Stem cell transplant . In some cases, a stem cell transplant can be a treatment for CGD. The decision to treat with a stem cell transplant depends on several factors, including prognosis, stem cell source, and patient preferences.

Future treatments

Currently, doctors are still working to find effective and specific treatments for this disease. The methods include:

  • Gene therapy is currently being explored for the treatment of CGD, but more research is needed.
  • Researchers are also working on repairing defective genes to treat CGD.

Chronic granulomatosis (CGD) is a disease that affects the body's immune system function. From there, it can cause infections of many organs of the body. If you have suspicious signs of the disease, see your doctor for the necessary diagnostic tests and appropriate treatment.

Doctor DAO THI THU HUONG