1 What is Chronic Granulomatous Disease?
Chronic granulomatous disease (CGD) is a genetically acquired immunodeficiency characterized by impaired infection-fighting capacity of a type of white blood cell (phagocyte), which results in increased susceptibility to infections from bacteria and fungi.
Consequently, people with chronic granulomatous disease are more likely to develop
pneumonia, lung infections,
lymph node infections,
or other infections.
White blood cells can clump and form a mass on the infected areas (granulomas).
Diagnosis is generally made during childhood, if any but in some cases, it may be diagnosed later in adulthood.
The signs and symptoms of chronic granulomatous disease include:
Infections of skin in most cases
Pneumonia or pus formation in the lungs Inflammation of lymph nodes often accompanied by discharge of pus
Diarrhea Abscess around the anus or rectum or in liver or spleen.
Bone infection (
osteomyelitis) Serious life-threatening infection of blood (Septicemia)
Raised, red bumps on skin (Granulomas)
When to see a doctor?
Visit your doctor immediately if you notice symptoms of pneumonia or other infection in your child who has already been diagnosed with CGD.
Consult your doctor if any infection of lung, skin, or other organs is unresponsive to treatment.
Chronic granulomatous disease can be caused by genetic mutations that result in production of faulty proteins.
Phagocytes containing these faulty proteins are not able to destroy the bacteria and fungi.
Some individuals without genetic mutations can also develop CGD. In such cases, the cause remains a mystery.
People with CGD have chronic and recurrent infections.
Naturally, boys are more prone to developing CGD compared to girls due to the pattern of genetic transfer (sex-linked trait).
4 Making a Diagnosis
The diagnosis of chronic granulomatous disease begins with a physical examination to look for swelling in your child’s liver, spleen and lymph nodes.
Your child’s doctor can also examine if there is bone infection.
How to prepare yourself for the visit?
Getting prepared for the visit can optimize the therapy and help make the visit more fruitful. List out all the symptoms.
Write down your key medical information. Write down the names of all your medications, vitamins or supplements.
Make a list of the questions to ask your child’s doctor
Some typical questions can be:
What could be possible causes of my child’s symptoms?
What are the tests that my child needs?
What are the treatment options and their side effects?
What your doctor wants to know?
A clear talk with your child’s doctor can optimize the therapy and improve the outcomes.
Prepare yourself to answer some essential questions from your child’s doctor. S/he may ask:
What are the symptoms and when did they start appearing?
How severe are the symptoms?
Does anything improve or worsen them?
Does your child have a family history of CGD?
Some diagnostic methods for CGD in your child include Bone scan: This test helps to detect infections in the bone. Chest x-ray: Pneumonia which is common in CGD can be confirmed by taking X-ray of your child’s chest. Complete blood count (CBC): Your child’s blood may be drawn and tested to determine the levels of various blood cells in the sample. Flow cytometry: This test helps to confirm the disease.
Nitroblue tetrazolium test (NBT) to help diagnose the disease and find out whether the mother is a carrier.
There is no drug that cures chronic granulomatous disease while the symptoms like infections and abscess can be treated with antibiotics, and surgery whenever required.
The only cure for CGD is a bone marrow or stem cell transplant. The treatment involves:
The treatment involves administration of antibiotics based in the type of infection. They may also be used to prevent infections.
This drug has been approved by US FDA to treat CGD. It can also help reduce the number of severe infections.
If abscesses do not heal with medications, surgery can be considered.
6 Risk and Complications
There are several risks and complications associated with chronic granulomatous disease.
Risk Being a male is the single biggest risk to develop CGD. Complications
Chronic infections in the nose
pneumonia that recurs Lung damage
Skin and soft tissue damage
Swelling in lymph nodes often accompanied by pus-filled areas that need surgery to drain them