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Chronic Granulomatous Disease

In chronic granulomatous disease (CGD), abnormal neutrophil metabolism impairs phagocytosis - one of the body's chief defense mechanisms-resulting in increased susceptibility to low-virulent or nonpathogenic organisms, such as Staphylococcus epidermidis, Escherichia coli, Aspergillus, and Nocardia. Phagocytes attracted to sites of infection can engulf these invading organisms but are unable to destroy them.

Patients with chronic granulomatous disease have an increased susceptibility to infection with staphylococcus, gram-negative bacteria and fungi.


Patients with CGD have poorly functioning phagocytes caused by mutations in one of four different genes. The abnormal genes cannot make proteins necessary to produce oxygen byproducts, such as hydrogen peroxide and superoxide, which kill bacteria and fungi.

Signs and symptoms

Usually,the patient with CGD displays signs and symptoms by age 2, associated with infections of the skin, lymph nodes, lungs, liver, and bone. Skin infection is characterized by small, welllocalized areas of tenderness. Seborrheic dermatitis of the scalp and axilIa is also common. Lymph node infection typically causes marked lymphadenopathy with draining lymph nodes imd hepatosplenomegaly.

Many patients develop liver abscess, which may be recurrent and multiple. Abdominal tenderness, fever, anorexia, and nausea point to abscess formation. Other common infections include osteomyelitis, which causes localized pain and fever; pneumonia; and gingivitis with severe periodontal disease


Diagnosis is made based on the observation of a pattern of recurrent infections. Blood tests of lymphocyte and antibody functions will be normal. Tests of phagocytic cells will show normal ingestion, but a greatly decreased ability to kill bacteria.


Early, aggressive treatment of infection is the chief goal in caring for a patient with CGD. Areas of suspected infection should be biopsied or cultured, with broad-spectrum antibiotics usually started immediately - without waiting for the results of cultures. Confirmed abscesses may be drained or surgically removed.

Many patients with CGD receive a combination of LV. antibiotics, often extended beyond the usual 10- to 14­day course. However, for fungal infections with Aspergillus or Nocardia, treat­ment involves amphotericin B in gradually increasing doses to achieve a maximum cumulative dose.

To help treat life-threatening or antibiotic-resistant infection or to help localize infection, the patient may receive granulocyte transfusions- usually once daily until the crisis has passed. Transfusions shouldn't be given for 6 hours before or after amphotericin B to avoid severe pulmonary edema and, possibly, respiratory arrest. Interferon is an experimental but promising treatment in CGD.


Genetic counseling is recommended for prospective parents with a family history of chronic granulomatous disease. Advances in genetic screening and increasing use of chorionic villus sampling have made early recognition of chronic granulomatous disease feasible, although the practice is not yet widespread or fully accepted. Carrier status in the female can be identified by testing.

Preventive (prophylactic) antibiotics may help keep some infections from occurring, and good hygiene, especially rigorous skin and mouth care, can help prevent infections in these areas. Avoiding crowds or other people who have infections are also effective preventive measures.

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