Chronic granulomatous disease

Chronic Granulomatous Disease

Chronic granulomatous disease (CGD; /ˈkrɒnɪk ˌɡrænjʊˈloʊmətəs dɪˈziːz/), is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming granulomas, a type of inflammation that walls off infections. The name comes from the Greek words "chronos" (meaning "time") and "granuloma" (meaning "small grain"), referring to the long-term, grain-like nodules that form in this condition.

Causes

CGD is caused by a defect in the NADPH oxidase complex, which reduces the ability of neutrophils and macrophages to kill certain types of bacteria and fungi. This defect is inherited in an X-linked recessive or autosomal recessive manner.

Symptoms

Symptoms of CGD can vary greatly, but often include recurrent bacterial infections and fungal infections, granuloma formation, and inflammation in various parts of the body.

Diagnosis

Diagnosis of CGD is typically made through a series of tests, including a blood test to measure the function of the neutrophils, and genetic testing to identify the specific mutation causing the disease.

Treatment

Treatment for CGD typically involves managing infections with antibiotics and antifungal medication, and in severe cases, a bone marrow transplant may be considered.

Prognosis

With early diagnosis and appropriate treatment, many people with CGD can lead relatively normal lives. However, the disease can be life-threatening if not properly managed.

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Chronic granulomatous disease