Chronic granulomatous disease

Chronic granulomatous disease: Description, Causes and Risk Factors:Abbreviation: CGD.Alternative Names: Granulomatous disease, congenital dysphagocytosis, progressive septic granulomatosis, fatal granulomatosis.Chronic granulomatous disease is a genetically inherited disease characterized by an inability of the body's phagocytic cells (phagocytes) to make hydrogen peroxide (H2O2) and other oxidants needed to kill certain microorganisms. It is a disorder in which immune system cells called phagocytes do not function properly. This leads to ongoing infection. Patients with CGD have an increased susceptibility to infections caused by certain bacteria and fungi.Chronic granulomatous disease is a genetically determined disease and can be inherited or passed on in families. There are two patterns for transmission. More than 50% of cases of CGD are inherited as an X-linked recessive trait and thus occur only in males; in the rest, inheritance is autosomal recessive. In CGD, WBCs do not produce hydrogen peroxide, superoxide, and other activated O2 compounds because nicotinamide adenine dinucleotide phosphate oxidase activity is deficient. Phagocytic cell microbicidal function is defective; thus, bacteria and fungi are not killed despite normal phagocytosis. It is important to understand the type of inheritance so families can understand why a child has been affected, the risk that subsequent children may be affected, and the implications for other members of the family.The exact incidence of the condition is unknown but is thought to affect approximately 8-10 people in a million. People with chronic granulomatous disease carry a faulty bone marrow gene.Symptoms:Fevers.
  • Skin rashes.
  • Chronic infection inside the nose.
  • Furuncles.
  • Persistent cough.
  • Boils.
  • Pneumonia.
  • Gum disease.
  • Swollen glands or lymph nodes.
  • Enlarged liver and spleen.
Diagnosis:Chronic granulomatous diseasePhysical examination may show hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and generalized adenopathy (swelling of multiple lymph nodes all over the body). There may be signs of osteomyelitis, sometimes affecting multiple bones.Diagnosis to confirm CGD is by flow cytometric respiratory burst assay to detect O2 radical production. The test can also identify female carriers of the X-linked form.Other tests may include:Complete Blood Count (CBC).
  • ESR.
  • Bone scan.
  • Liver scan.
  • Chest X-ray.
Treatment of chronic granulomatous disease:Acute infections should be treated aggressively with appropriate antibiotics. Antibiotics may also be prescribed to prevent infection (prophylactically). Initial therapy with antibiotics aimed at the most likely offending organisms may be necessary while waiting for results of cultures. 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.Disclaimer:The above information is general information. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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