Definition

Chronic granulomatous disease develops when a specific gene from both parents passes to the child. This gene causes abnormal cells to develop in the immune system. The abnormal cells are called phagocytic cells. They normally kill bacteria. With this disease, these cells cannot work properly. As a result, the body can not fight some types of bacteria. It also makes infections likely to return.

The increased risk of infections can lead to premature death. Repeated lung infections are often the cause of death with this disease. Preventative care and treatment can help to reduce and temporarily control infections.

CGD is a rare condition.

Causes

The disease is usually caused by a recessive gene. This means two of these defective genes have to be present for the disease to develop. This gene is carried on the X chromosome. Both parents must have the gene.

Risk Factors

The following factors increase your chance of developing CGD:

    
  • Parents who have the recessive trait
  • Being female

    • Symptoms

        

    Typically, symptoms begin to appear in childhood. In some, they may not appear until the teen years.

    Symptoms include:

  • Swollen lymph nodes in the neck
  • Frequent skin infections that are resistant to treatment, such as:     
  • Abscesses
  • Boils
  • Persistent diarrhea
  • Bone pain
  • Joint pain

    • Bacterial Skin Infection

    Impetigo

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    Diagnosis

    Your doctor will ask about your symptoms and medical history. A physical exam will be done.

    Tests may include the following:

        
  • You may have you bodily fluids and tissue tested. This can be done with:     
  • Biopsy
  • Complete blood count (CBC)
  • Dihydrorhodamine reduction (DHR) flow cytometry test—a blood test that looks at the ability of phagocytes to make chemicals that can destroy bacteria
  • Erythrocyte sedimentation rate (ESR)—to test for inflammation
  • You may have pictures taken of your bodily structures. This can be done with:     
  • Chest x-ray
  • Bone scan
  • Liver scan

    • Treatment

    Talk with your doctor about the best plan for you. Treatment options include:

    Medications

    You may be given medications to treat this condition.

        
  • Antibiotics—used to prevent and treat infections
  • Interferon gamma —reduces the number of infections in patients; not useful in newly active infections

    • Bone Marrow Transplantation

    Bone marrow transplantation may be an option. A suitable donor will need to be found. It is a definitive cure.

    Surgery

    Surgery may involve the removal of abscesses.

    Vaccines

    Some live viral vaccines should be avoided. You should talk to your doctor before receiving one.

    Prevention

    CGD is an inherited disease. There are no preventive steps to reduce the risk of being born with the disease. Genetic counseling may be helpful. It can be used to detect carrier status in woman. Early diagnosis is vital. It will allow for early treatment. The bone marrow transplant donor search can also be started.