Chronic Granulomatous Disease (Cgd)

Hallmark of chronic granulomatous disease are the inability of leukocytes to produce activated O2Verbindungen, and a defect of the microbicidal function of phagocytes. These disorders are manifested in recurrent infections, multiple granulomatous lesions of the lung, liver, lymph nodes and gastrointestinal and genitourinary tracts; Further, there may be abscesses, lymphadenitis, hypergammaglobulinemia, elevated erythrocyte sedimentation rate (ESR) and anemia come. The diagnosis is made by flow cytometry (oxidative burst assay) which is used to determine the formation of O2Radikalen in leukocytes. The treatment consists of the administration of antibiotics, antifungal substances and interferon-gamma; Transfusions of granulocytes may be necessary.

(See also Overview of Immunodeficiency Disorders and approach to the patient with an immunodeficiency disorder.)

Hallmark of chronic granulomatous disease are the inability of leukocytes to produce activated O2Verbindungen, and a defect of the microbicidal function of phagocytes. These disorders are manifested in recurrent infections, multiple granulomatous lesions of the lung, liver, lymph nodes and gastrointestinal and genitourinary tracts; Further, there may be abscesses, lymphadenitis, hypergammaglobulinemia, elevated erythrocyte sedimentation rate (ESR) and anemia come. The diagnosis is made by flow cytometry (oxidative burst assay) which is used to determine the formation of O2Radikalen in leukocytes. The treatment consists of the administration of antibiotics, antifungal substances and interferon-gamma; Transfusions of granulocytes may be necessary. (See also Overview of Immunodeficiency Disorders and approach to the patient with an immunodeficiency disorder.) The chronic granulomatous disease (CGD) is a primary immunodeficiency disease, including phagocytic cell defects. In more than 50% of cases with CGD, the disease is inherited as an X-linked recessive trait and therefore only occurs in men. In other cases, the inheritance is done autosomal recessive trait. Frequent mutations that are responsible for CGD concerning gp91phox- (X-linked form) p22phox-, p47phox- and p67phox genes. Because of a lack of activity nicotinamide adenine dinucleotide phosphate oxidase-leukocytes of patients with CGD no hydrogen peroxide, superoxide and no no recognized O2 compounds can form. Due to a defect of the microbicidal function can not be destroyed bacteria and fungi, despite normal phagocytosis. Symptoms and complaints The chronic granulomatous disease (CGD) is manifested by recurrent abscesses in early childhood. In some patients, the onset of the disease can be delayed until the early adolescence. Typical pathogens are catalase-producing pathogens (eg., Staphylococcus aureus, Escherichia coli, Serratia, Klebsiella, Pseudomonas sp., And fungi). Aspergillus infections are the main cause of death. Multiple granulomatous lesions occur in the lungs, liver, lymph nodes, gastrointestinal and genitourinary tract on (where they cause obstructions). Purulent lymphadenitis, hepatosplenomegaly, pneumonia and haematological signs of chronic infection are often seen. In addition, skin, lymph node, lung, liver and perianal abscesses, stomatitis and osteomyelitis occur. The growth may be delayed. Diagnostic flow cytometric oxidative (Respiratory) Burst Assay The diagnosis of CGD is provided by means of a flow cytometry oxidative (Respiratory) Burst assay with which to determine the formation of O2 radicals using dihydrorhodamine 123 (DHR) or nitro blue tetrazolium (NBT) leaves. This test can also identify female carriers of X-linked recessive bound form and shapes. Genetic testing be carried out in research institutes and are not required to make the diagnosis. Siblings are typically validated using DHR shortly after the diagnosis. Hypergammaglobulinemia and anemia may occur that BSG is increased. Prophylactic antibiotics therapy and usually antifungal Normally interferon-gamma In severe infections, granulocyte transfusions Hematopoietic Stem Cell Transplant Treatment of CGD consists 160/800 mg po at regular prophylactic administration of antibiotics, especially trimethoprim-sulfamethoxazole 2 times / day. Oral antifungal drugs are given as primary prophylaxis or added if fungal infections also occur only once; useful itraconazole are po every 12 h (100 mg in patients <13 years 200 mg for those ? 13 years of age or a weight of> 50 kg) voriconazole p.o. every 12 h (100 mg for those weighing <40 kg; 200 mg for those weighing ? 40 kg) posaconazole (400 mg twice daily), interferon-gamma can reduce the severity and frequency of infections and is the treatment usually added. The usual dose is 50 ug / m2 s.c. 3 times / week. In severe infections granulocyte transfusions can be life-saving. If the transplant is preceded by a chemotherapy, a HLA-matched hematopoietic stem cell transplantation of siblings is usually successful. Gene therapy is being studied in recent studies. Key points A chronic granulomatous disease (CGD) is suspected when patients have recurrent abscesses during infancy (sometimes not before early adolescence), especially if the pathogen is a catalase-producing pathogens (eg., Staphylococcus aureus, Escherichia coli, Serratia, Klebsiella, Pseudomonas sp. and fungi). The flow cytometric oxidative burst assay is used for diagnosis of CGD and to identify the carrier. Most patients are treated with prophylactic antibiotics, antifungals and interferon-gamma. In severe infections Granulozyttransfusionen be administered. Drag a hematopoietic bone marrow transplantation considered.

Health Life Media Team

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