Free Online Database Of Diseases, Illnesses & Ailments


Chronic granulomatous disease

Chronic granulomatous disease 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.

Chronic granulomatous disease 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.

Chronic granulomatous disease 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.

Chronic granulomatous disease 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.

Most Viewed Pages

Recent Searches

Our Visitors Ask About

Medical News