Chronic granulomatous disease (CGD) is a hereditary ailment in which a kind of white blood cell (phagocyte) that normally aids your body in fighting infections fails to function correctly. As a result, your phagocytes are unable to protect your body against bacterial and fungal diseases.
Chronic granulomatous disease patients may develop infections in their lungs, skin, lymph nodes, liver, stomach, and intestines, among other places. Infected regions may also form clumps of white blood cells. The majority of persons are diagnosed with CGD as children, although others may not be diagnosed until they are adults.
WHAT ARE THE SYMPTOMS OF CHRONIC GRANULOMATOUS?
Every few years, people with chronic granulomatous illness have a significant bacterial or fungal infection. Lung infections, especially pneumonia, are prevalent. After being exposed to decaying leaves, mulch, or hay, people with CGD may get a dangerous kind of fungal pneumonia.
Infections of the skin, liver, stomach and intestines, brain, and eyes are also prevalent in persons with CGD. Infection-related signs and symptoms include:
- Fever
- Pain in the chest during inhaling or exhaling
- Mouth swelling and redness
- Lymph glands that are swollen and painful
- A chronic runny nose
- Skin irritation, such as a rash, edema, or redness
- Gastrointestinal issues such as vomiting, diarrhea, stomach discomfort, bloody stool, or a painful pus pocket near the anus
WHAT ARE THE CAUSES OF CHRONIC GRANULOMATOUS?
CGD can be caused by a mutation in one of five genes. CGD patients acquire the gene mutation from one of their parents. Normally, genes create proteins that combine to make an enzyme that aids in the proper functioning of your immune system. The enzyme is active in white blood cells (phagocytes), which capture and eliminate fungus and germs to keep you healthy. The enzyme is also present in immunological cells, which aid in the healing process.
When one of these genes is mutated, the protective proteins are either not generated or are created but do not function correctly.
Some CGD patients do not have one of these gene mutations. In many circumstances, doctors are unsure what is causing the disease.
WHAT ARE THE RISK FACTORS FOR CHRONIC GRANULOMATOUS?
CGD is more common in boys. People who have a family member with CGD are more likely to get the condition. Most of the time, it is inherited. It is more usually caused by a spontaneous genetic mutation.
WHAT ARE THE COMPLICATIONS OF CHRONIC GRANULOMATOUS?
Complications from CGD might include:
- Autoimmune diseases (when the body attacks its own cells) - although it occurs in fewer than 5% of all instances
- Difficulty digesting food owing to abscesses and intestinal inflammation
- Growth retardation
- Inflammatory bowel disease (disorder that involves bloody stool, diarrhea, stomach pain and vomiting)
HOW IS CHRONIC GRANULOMATOUS DIAGNOSED?
Your doctor will analyze your family and medical history as well as do a physical exam to diagnose CGD. To diagnose CGD, your doctor may conduct numerous tests, including:
- Neutrophil function tests: Your doctor may do a dihydrorhodamine 123 (DHR) test or other tests to determine the function of a kind of white blood cell (neutrophil) in your blood. This test is commonly used by doctors to identify CGD.
- Genetic testing: A genetic test may be ordered by your doctor to confirm the existence of a specific genetic mutation that causes chronic granulomatous illness.
- Prenatal testing: If one of your children has already been diagnosed with CGD, doctors may perform prenatal testing to detect it.
WHAT ARE THE TREATMENTS FOR CHRONIC GRANULOMATOUS?
CGD treatment aims to help you prevent infections and manage your disease. Treatment options may include:
- Infection control: Your doctor will attempt to prevent bacterial and fungal illnesses from occurring in the first place. Continuous antibiotic medication, such as trimethoprim and sulfamethoxazole (Bactrim, Sulfatrim Pediatric) to prevent bacterial infections and itraconazole (Sporanox, Tolsura) to prevent fungal infections, may be used. If an infection occurs, further antibiotics or antifungal drugs may be required.
- Interferon-gamma: Interferon-gamma injections may be given on a regular basis to assist your immune system battle infections.
- Stem cell transplantation: A stem cell transplant may be able to treat CGD in certain individuals. A lot of variables influence the decision to treat with stem cell transplantation, including prognosis, donor availability, and personal choice.
Future treatment options
Gene therapy is currently being investigated for the treatment of CGD, but more study is required.
Researchers are also looking at correcting faulty genes to cure CGD.
CONCLUSION
Apart from the faulty function of particular immune system cells in CGD, the rest of the immune system functions normally. People with CGD can be healthy in general until they become infected with one of the diseases that those faulty cells are unable to combat. The severity of these illnesses sometimes necessitates lengthy stays for treatment.
According to research, the severity of CGD varies from person to person, and the long-term life expectancy for those with CGD has recently grown significantly. However, it has been indicated that persons who develop CGD symptoms early in life may have a lower life duration.