Chronic Granulomatous Disease

Information About Chronic Granulomatous Disease

About one in every 250,000 is diagnosed with Chronic Granulomatous Disease (CGD). CGD is a rare inherited disease in which the defective gene is carried on the X chromosome. When someone has this disease, the immune system cells do not function like a normal person's would. This means that these cells, known as phagocytes, cannot always kill bacteria and fungi. There are different type of bacteria and fungi that are especially dangerous to those with this disease. In most cases, males are affected, not so much the females. There are many symptoms in which those who have CGD normally have. There are also tests that can determine if one has the disease. There are different treatments but there is not a cure. Death is not out of the question for many CGD victims. Also, when a person that is diagnosed with CGD is sick, his doctor should be contacted immediately because it could be a sign of infection. CGD is manageable but could be deadly and harmful to the body.

With CGD, phagocytes are not as strong as they would be in a person without the disorder. The phagocytes are killed when they come into contact with bacteria and fungi. In normal people, phagocytes are able to kill these invaders because they have a chemical that is similar to bleach. In fact, phagocytes are considered ‘mini bleach factories' but in people with CGD, the phagocytes in their immune system do not have this chemical and therefore are not able to kill off invaders and have a high risk of being infected with bacterial and fungal infections. These infections can be life-threatening.

As stated before, CGD is most common in males. The reason for this being that the defective gene is carried by the mother on her X chromosome. The male does not have a 100% of getting the disease but a 50-50 chance. The only way a female can get this disease is if her dad has the disease, and her mother gives her the carrier gene. 60% of males with CGD were given the defective gene on the X chromosome and the other 40% is autosomal recessive. Normally, doctors do not diagnose a child until they are three months of age.

In order to diagnose someone with CGD, doctors need symptoms that would lead them to test for the disease in the first place. Some symptoms are bacterial infections, fungal infections, or enlarged lymph nodes, difficult-to-clear skin infections (abscesses, chronic infection inside the nose, furuncles, impetignized eczema, impetigo, perianal abscesses), joint infections, bone infections, persistent diarrhea, and reoccurring pneumonia. Most CGD patients have these symptoms and therefore need to be tested for the disease.

The diagnosis is normally determine because patients that are suffering from bacterial infection, fungal infections, or enlarged lymph nodes that continue to return to the body or have a severe case. So, when a person has bacterial or fungal infections that won't go away or keep coming back, the doctor would look to see what the cause of that could be; same with enlarged lymph nodes. These are the main symptoms in which a doctor would conduct a blood test to confirm the diagnosis. The blood test would reveal if the phagocytes are able to produce the chemical that is like bleach. This is the main test that would diagnose a person with CGD. After the disease is confirmed, the doctor would order more tests such as special X-rays, urine tests (depending on the symptoms), and maybe more blood tests.

There are also many kinds of infections that are common in CGD patients. Some common types of bacteria are Staphylococcus aureas, Salmonella, and Pseudomonas. The most common type of fungi is Aspergillus. These infections can occur anywhere in the body but target the lymph nodes, skin, liver, intestines, nostrils, mouth, and bones the arms and/or legs. Warning signs of infection are the same as the symptoms of CGD. Good news is that most of the time the infections can be cleared up. Bad news is that clearing up infections in CGD patients isn't always easy. Some antibiotics are given through an IV and could be a long process. Some patients that have long term IVs tend to lose their appetites, which causes a loss in nutrition and could lead to the person having to drink protein shakes or a feeding tube inserted. Many patients suffering from CGD have a serious infection every 3-4 years. This obviously varies from person to person, no one person is the same.

People that have CGD should take daily medications to prevent infection. Patients would need to take antibacterial and antifungal medicine in order to live a somewhat healthy life. These medicines obviously to not guarantee against infection but they do help prevent them. Antibiotics are also used to help prevent from an infection from breaking out. This antibiotic is called Co-Trimoxazole and is used to provide protection against infections that can lead to severe problems in CGD patients. Inflammation is another problem that people with CGD face. Colitis is a common problem in CGD patients. It is the inflammation of the large bowel. This type of problem can be treated with anti-inflammatory medicine; including steroids.

Although there are a lot of treatments, there is only one possible cure. This would be for the person with CGD to receive a bone marrow transplant. The entire procedure is dangerous and high-risk. Bone marrow produces red blood cells, white blood cells, and platelets. When a patient receives a bone marrow transplant, they have to go through chemotherapy to completely wipe out their immune system. This is especially dangerous because if they get any type of infection, even just a common cold, they could die. It is really risky. There is also a chance of having the bone marrow reject.

CGD is a rare and dangerous immune deficiency that one in every 250,000 babies are born with. There is a cure, but one that is dangerous and life-threatening. There are treatments, but one cannot go a day without taking medicine. Children cannot be exposed to certain things because it contains bacteria and fungi. CGD could be extremely hard to live with, especially kids who just want to be kids. The parents may feel the guilt of giving their child something that affects their everyday life. What fun is that? None.


1. Chronic Granulomtus Disorder: A Guide for Patients and Families, CGD Research Fund, 2007 Edition

2. Chronic Granulomatous Disease, ADAM Inc.,, Updated 2008

Please be aware that the free essay that you were just reading was not written by us. This essay, and all of the others available to view on the website, were provided to us by students in exchange for services that we offer. This relationship helps our students to get an even better deal while also contributing to the biggest free essay resource in the UK!