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 CGD may develop granulomatous inflammation, which leads to ischemic tissue damage.
CGD is inherited as a recessive X-linked trait in 50% to 60% of affected patients. Males are more likely to be affected. The genetic defect may be linked to deficiency of the enzyme NADH, NADPH oxidase, or NADH reductase. The inability of phagocytic cells to kill certain bacteria and fungi leads to long-term and repeated infections.
Usually, the patient with CGD displays signs and symptoms associated with infections of the skin, lymph nodes, lung, liver, and bone by age 2. Skin infection is characterized by small, well-localized areas of tenderness. Seborrheic dermatitis of the scalp and axilla is also common. Lymph node infection typically causes marked lymphadenopathy with draining lymph nodes and 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.
Clinical features of osteomyelitis, pneumonia, liver abscess, or chronic lymphadenopathy in a young child provide the first clues to CGD diagnosis.
Patients with CGD show impaired NBT reduction, indicating abnormal neutrophil metabolism. Another test measures the rate of intracellular killing by neutrophils; in CGD, killing is delayed or absent.
Other laboratory values may support the diagnosis or help monitor disease activity. Osteomyelitis typically causes elevated white blood cell count and erythrocyte sedimentation rate; bone scans help locate and size such infections. Recurrent liver or lung infection may eventually cause abnormal function studies. Cell-mediated and humoral immunity are usually normal in CGD, although some patients have hypergammaglobulinemia.
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, and broad-spectrum antibiotics are usually started immediately — without waiting for results of cultures. Confirmed abscesses may be drained or surgically removed. Provide meticulous wound care after such treatment, including irrigation or packing.
Many patients with CGD receive a combination of I.V. antibiotics, in many cases extended beyond the usual 10- to 14-day course. However, for fungal infections with Aspergillus or Nocardia, treatment involves amphotericin B in gradually increasing doses to achieve a maximum cumulative dose. During I.V. drug therapy, monitor vital signs frequently and rotate the I.V. site every 48 to 72 hours.
To help treat antibiotic-resistant or life-threatening infection, or to help localize infection, the patient may receive granulocyte transfusions — usually once daily until the crisis has passed. During such transfusions, watch for fever and chills (these effects can sometimes be prevented by premedication with acetaminophen). Transfusions shouldn’t be given for 6 hours before or after amphotericin B to avoid severe pulmonary edema and, possibly, respiratory arrest.
Interferon-gamma may help reduce the number of severe infections. Bone marrow transplantation is also promising.
❑ If prophylactic antibiotics are ordered, teach the patient and his family how to administer them properly and how to recognize adverse effects. Advise them to promptly report any signs or symptoms of infection.
❑ Stress the importance of good nutrition and hygiene, especially meticulous skin and mouth care.
❑ During hospitalizations, encourage the patient to continue his activities of daily living as much as possible.
❑ If the patient is a child, arrange for a tutor to help him keep up with his schoolwork.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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Title: Professional Guide to Diseases (Eighth Edition)
Authors: Springhouse
Publisher: Lippincott Williams & Wilkins
Copyright: 2005
ISBN: 1-58255-370-X
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