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Alternative Names Return to topCGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis
Definition Return to top
Chronic granulomatous disease is an inherited disorder in which immune system cells called phagocytes do not function properly. This leads to ongoing infection.
Causes Return to top
In chronic granulomatous disease (CGD), phagocytic cells are unable to kill certain bacteria and fungi. This leads to long term (chronic) and repeated (recurrent) infections. The condition is often discovered in very early childhood. Milder forms may appear during the teen years or even in adulthood.
Impetigo, skin abscesses and furuncles, and perianal and rectal abscesses are common in people with this disorder. Pneumonia that keeps coming back, and is caused by bacteria not typical of most pneumonias, is a significant problem. Chronic swelling of the lymph nodes in the neck, with the formation of abscesses, is common.
Risk factors include a family history of recurrent or chronic infections.
About half of CGD cases are transmitted as a recessive, sex-linked trait. This means that boys are more likely to inherit the disorder than are girls. Boys have an X and a Y chromosome. Girls have two X chromosomes. The defective gene is carried on the X chromosome. So, if a girl has one X chromosome with the defective gene, the other X chromosome may have a working gene to make up for it. A girl has to inherit the defective gene from both parents in order to have the disease.
About 1 in a million people have CGD.
Symptoms Return to top
Exams and Tests Return to top
Physical examination may show an enlarged liver (hepatomegaly), enlarged spleen (splenomegaly), and swelling of multiple lymph nodes all over the body (generalized adenopathy). There may be signs of osteomyelitis, sometimes affecting multiple bones.
A tissue biopsy may show granulomas (groups of abnormal phagocytes).
Other tests may include:
Treatment Return to top
Acute infections should be treated aggressively with appropriate antibiotics. Antibiotics may also be prescribed to prevent infection (prophylactically). These are taken on a daily basis to try to decrease the frequency of infection. Interferon-gamma may also be helpful in reducing the number of severe infections. When abscesses form, if possible they should be treated by a surgeon
The only cure for chronic granulomatous disease is a bone marrow transplant.
Outlook (Prognosis) Return to top
Long-term antibiotic treatments may help to reduce infections, but early death is typically a result of repeated lung infections.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
If you or your child have this condition and you suspect pneumonia or other infection, call your health care provider immediately.
Notify your health care provider if a lung, skin, or other infection does not respond to treatment.
Prevention Return to top
Genetic counseling is recommended if you are planning to have children and have a family history of chronic granulomatous disease. Advances in genetic screening, and increasing use of chorionic villus sampling, have made early recognition of CGD possible. However, the practice is not yet widespread or fully accepted. There are tests available to identify if you are a female carrier of the disease.
References Return to top
Boxer LA. Disorders of phagocyte function. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 129.
Glogauer M. Disorders of phagocyte function. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 175.Update Date: 9/28/2008 Updated by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Jatin M. Vyas, MD, PhD, Instructor in Medicine, Harvard Medical School, Assistant in Medicine, Division of Infectious Disease, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.