Chronic granulomatous disease, also known as Bridges – Good syndrome and Quie syndrome is a hereditary disease that occurs when certain cells of the immune system encounter difficulties in forming reactive oxygen compounds (especially radical superoxide) due to damage to phagocytes, when such reactive compounds are needed to kill pathogens. Consequently, Granulomatous is formed in many organs.
People with chronic granulomatous disease are often infected with pneumonia, lung infections, dermatitis, infection of the lymph nodes, liver infections, gastrointestinal inflammation or other infections. They are more at risk of developing a group of white blood cells (masses) in infected areas (granulomas).
Most people are diagnosed with CGD in childhood, but in some people this condition may not be diagnosed until adulthood
The disease affects approximately 1 in 200,000 people in the United States, with about 20 cases recorded annually.
The disease was first discovered in 1950 on the four sons of Minnesota. The mechanism that resulted in the disease was discovered in 1967. Bernard Babior had contributed to the efforts to discover the cause of the disease with damage to the superoxide production process in white blood cells.
Harmful infections can lead to premature death. The frequent causes of death in this disease are recurrent lung infections. Preventive and treatment can reduce the risk of infection and control temporary infections.
Chronic Granulomatous Disease in children
Chronic Granulomatous disease is a type of primary immune deficiency disease, in which a group of white blood cells called neutrophils, fails to form hydrogen peroxide which is required to fight bacterial and fungal infections in the body
This disease is classified as not contagious and caused by hereditary or genetic factors. Those who are affected by this disease will experience repeated infection attacks due to decreased immune system capacity to resist disease-causing organisms.
Chronic Granulomatous Disease Causes
More than 50% of cases of chronic granulomatous disease are inherited and are mostly in males. In chronic granulomatous disease, white blood cells do not produce an active substance that makes it unable to kill bacteria and fungi as it should.
Chronic Granulomatous Disease Symptoms
- Chronic granulomatous disease usually begins with the emergence of recurrent abscesses during children, but symptoms can also occur during adolescence. Infection by certain organisms can even lead to death.
Multiple granulomatous lesions may appear in the lungs, liver, lymph nodes, gastrointestinal tract, and urinary tract. Patients with the chronic granulomatous disease can experience obstacles in their growth.
Some other symptoms that can be found in chronic granulomatous disease:
- Infections of the bones and joints
- Skin infections that are often occurring and difficult to heal, e.g. Abscesses
- Sedentary diarrhea.
Diagnosis of chronic Granulomatous disease
The doctor will ask about the symptoms and medical history, and perform a physical exam. Tests may include the following:
Studies of liquids and tissues, with use:
- General blood analysis;
- The flow of cytometry using dihydrorhodamine blood test, where the presence of determining chemical phagocytes, which can kill bacteria;
- Levels of erythrocyte sedimentation (ESR) to determine the presence of inflammation;
Images can form within the body structure, where the following methods:
- Chest X-ray;
- Bone scan;
- Scanning the liver.
Life expectancy and prognosis
The individual life expectancy with CGD is slightly reduced due to repeated episodes of infection and inflammation. However, if people with CGD have the right treatment, most will live until the mid to late adulthood.
The best treatment plan for CGD is the prevention of infections. The following tips can help prevent infections:
- Avoid swimming in water other than ponds containing chlorine. Freshwater or salted water can contain organisms that, although safe for healthy people, it can cause infections in people with CGD.
- Avoid using mulch while gardening. Exposed mulch gardens can cause a life-threatening form of pneumonia Aspergillus infection.
- Changing piles of compost, repotting plants, and clearing warehouses are another activity that should be avoided by people with CGD.
When infections occur, treatment may include prophylactic antibiotics and antifungal medications. Infections in someone with CGD generally take a long time to be treated.
Bone marrow transplantation is another treatment option for some people with severe CGD symptoms. Bone marrow transplantation can cure CGD. However, the therapy is very complex, and the transplant candidates and donors should be carefully selected.