Chronic granulomatous disease

Below you will find more information about Chronic granulomatous disease from Medigest. If you believe that you are suffering from any of the symptoms of Chronic granulomatous disease it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Chronic granulomatous disease and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Chronic granulomatous disease comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Chronic granulomatous disease (CGD) is a group of hereditary illnesses wherein some cells in the immune system have a difficulty producing reactive oxygen compounds the body uses to kill ingested pathogens. This dyfunction leads to the presence of granulomata in the different organs of the body.

Treatment

In order to treat a person with CGD, the disease should be first diagnosed early so that antibiotics can be prescribed immediately and keep an infection from happening. Also, the patient must be educated about his or her condition so that treatment can be given when an infection comes about. Doctors prescribe trimethoprim-sulfamethoxazole as a prevention against bacterial infections. Fungal problems meanwhile are treated with itraconazole or voriconazole. Patients as well undergo the Interferon drug treatment in order to prevent infection, and this has been the standard treatment for CGD. Gene therapy is also considered as a treatment for chronic granulomatous disease, but the complications of this medication are still unknown.

Genetics

Chronic granulomatous disease is transmitted as a mutation on the X chromosome, in the gene that produces chromosome codes for the protein p91-PHOX. It can also be an autosomal recessive trait and involves other PHOX proteins, and the mutation may be in deletions, nonsense, missense or frameshift.

Pathology

CGD is the result of a defect in phagocytes. Phagocytes are cells in the immune system whose job is to produce reactive oxygen species with the help of an enzyme. This enzyme is called "phagocyte NADPH oxidase", and once produced it destroys harmful ingested bacteria in a process called phagocytosis. However, defects in the subunits of the enzyme causes CGD and eventually becomes unable to fight harmful bacteria.

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