Chronic Granulomatous Disease

Chronic Granulomatous Disease – General Information

Chronic Granulomatous Disease is an inherited disorder which affects certain type of cells, phagocytic cells, which are located in the immune system. These cells are a type of white blood cells and their role is to protect the body against the bacterial and fungal invaders. In order to be able to successfully perform this task, in a normal process, these cells are engulfing the invaders and annihilate them with toxic oxygen compounds. This way, the organism is protected against some serious diseases and infections which can appear because of bacteria and fungi which reach the interior of the human body.
When Chronic Granulomatous Diseases develops, these cells continue to accumulate in the affected area even after the antibiotics have extinguished the infection. Usually, this happens because the cells can not create the oxygen compounds which are responsible to stop the immune defenses of the organism; this way, the cells continue to do their job. Chronic Granulomatous Disease is a disease which is passed from the parents to the children, which means that is an inherited disorder. The genes which the child receives from one or both parents interfere with his own ability to deal with certain diseases. This is a severe disease and, in time, it can cause major problems. However, there have not been reported too many cases of babies who suffer from this disease; the average rate is about one baby in a million. The bad part is the fact that the signs and symptoms are not noticeable until the baby is a couple months old.

Chronic Granulomatous Disease – Symptoms

In most of the cases, Chronic Granulomatous Disease is conducted as a dominant sex-linked trait, which means that is more likely to affect men than women. In the case of men, if one of the parent has the genes which carry the disease, he will almost probably get the disorder; but, in the case of women, both parents must carry the genes in order to expect a sure diagnosis and only in a few cases, the girl inherits the disease if only one parent presents the genes.
In what concerns the evolution of the disease, the incapability of phagocytic cells to protect the body leads to long-term infections. In most of the cases, the disorder is detected in the first months of life; it can, however, develop more slowly.
The most common signs and symptoms which were reported in the case of Chronic Granulomatous Disease are:

• Swollen lymph nodes: these appear in the neck area, in the first weeks of life. They are the first sign of the development of this disease
• Pneumonia: it appears frequently and it is usually difficult to cure
• Abscesses in the swollen lymph: in this case, surgical intervention is necessary
• Severe and frequent skin problems: furuncles, internal infection of the nasal mucosa, abscesses, impetigo, eczema
• Joint infections
• Bone infections
• Persistent diarrhea

Chronic Granulomatous Disease – Treatment

If someone presents one or more of the signs and symptoms presented above, he should take the following tests in order to get a sure diagnosis:

• A physical examination: the results of this test could present some abnormalities of some organs: an enlarged spleen, an enlarged liver or the presence of lymph nodes in multiple areas of the body. In some cases, some signs of osteomyelitis can be noticed and, if so, the disorder is expected to affect a large number of bones.
• A tissue biopsy: this can give information about abnormal groups of phagocytes.
• X-ray
• Bone scan
• Nitroblue tetrazolium test
• Liver scan

After these tests are performed, the doctor will establish if the patient suffer from Chronic Granulomatous Disease or not. If the result is positive, he will need to determinate the type of the disease; if the patient suffers from an acute form, the first step of the treatment is the administration of antibiotics. These should be taken following a strict schedule and the first improvement which should be noticed is the reduction of the frequency of the infections. In addition, the doctor could prescribe interferon-gamma complex in order to diminish the number of infections. On the other hand, if the disease is in a more severe stage and the abscesses start to appear, a surgery is necessary immediately.   

In the case of young children who suffer from Chronic Granulomatous Disease, the prolonged administration of antibiotics could lead to a reduction of the number of infections, but, although doctors try to do everything that’s possible, sudden death is quite common. This happens especially because of the recurrent lung infections.  In what concerns the young children who suffer from Chronic Granulomatous Disease and who manage to survive during the treatment, in the future they can suffer a lot of complications: bone damage, chronic pneumonia, skin damage, lung damage, and so on.

In order to benefit from proper treatment, if you suspect that you present one or more of the symptoms of Chronic Granulomatous Disease, announce your personal doctor immediately and visit a medical centre. You should do the same thing if you notice some abnormal infections of the skin or repeated pneumonia which does not respond to treatment. In the case of parents who know that this disease was common in their families, the doctors should present all the possibilities before the parents decide to have a baby. If the parents answer is positive, the doctor should carefully monitor the pregnancy and try to find out whether the baby will suffer from the disorder or not. In addition, he must inform the parents about any modifications and possible problems and complications which may appear. In what concerns the mature sufferers of Chronic Granulomatous Disorder, the most important thing they should know is the fact that the hygiene is extremely important in order to avoid mouth or skin infections. They should use special products, with a big quantity of emollients. In addition, they should try to quit smoking and the usage of alcohol and drugs.