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Chronic granulomatous disease: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Chronic granulomatous disease is characterized by the inability of leukocytes to produce active forms of oxygen and the inability to phagocytose microorganisms. Manifestations include recurrent infections; multiple granulomatous changes in the lungs, liver, lymph nodes, gastrointestinal and genito-urinary tract; abscesses; lymphadenitis; hypergammaglobulinemia; increased ESR; anemia. The diagnosis is based on an analysis of the ability of leukocytes to produce oxygen radicals by flow cytometry of respiratory washings. Treatment includes antibiotic therapy, antifungal drugs, interferon y; can be shown granulocyte transfusion.
More than 50% of cases of chronic granulomatosis (CGD - chronic granulomatous disease, CGD - chronic granulomatous disease) is a hereditary disease linked to the X chromosome, and therefore occurs in men; The remaining cases are inherited in an autosomal recessive manner. In chronic granulomatous disease, leukocytes do not produce superoxide and hydrogen peroxide and other components of active oxygen due to the defect of nicotinamide adenine dinucleotide phosphorylase (NADP). In this regard, a violation of phagocytosis of microorganisms by phagocytic cells is noted, so that bacteria and fungi are not completely destroyed, as in normal phagocytosis.
[Symptoms of chronic granulomatous disease
Chronic granulomatous disease usually manifests as relapsing abscesses during early childhood, but in some patients it can manifest later, in early adolescence. Typical pathogens are catalase-producing organisms (for example, Staphylococcus aureus , Escherichia coli , Serratia , Klebsiella , Pseudomonas sp, fungi). Aspergillus fungi can cause death.
Multiple granulomatous lesions are noted in the lungs, liver, lymph nodes, gastrointestinal and genito-urinary tracts (causing obstruction). Often there are purulent lymphadenitis, hepatosplenomegaly, pneumonia, there are hematological signs of chronic infections. There are also abscesses of the skin, lymph nodes, lungs, liver, perianal abscesses; stomatitis; osteomyelitis. Growth can be violated. There are hypergammaglobulinemia and anemia, ESR is increased.
Diagnosis and treatment of chronic granulomatous disease
The diagnosis is based on the results of flow cytometry of bronchoalveolar flushes to determine the production of oxygen radicals. This test also helps to determine among women carriers of X-linked X-linked granulomatosis.
Antimicrobial therapy is carried out with trimethoprim-sulfamethoxazole 160/180 mg orally 2 times a day once or cefalexin 500 mg orally every 8 hours. Oral antifungal drugs are prescribed as primary prevention or added if the fungal infection has occurred at least once; the most frequently used itraconazole orally every 12 hours (100 mg for patients under the age of 13 years, 200 mg for patients 13 years or with a weight> 50 kg) or voriconazole orally every 12 hours (100 mg for patients weighing <40 kg, 200 mg for patients weighing 40 kg). Interferon (IF-y) will help reduce the severity or frequency of infections, probably due to an increase in the non-oxidant antimicrobial activity. Usually, a dose of 50 mcg / m 2 is administered subcutaneously 3 times a week. Transfusion of granulocytes will save in severe infectious processes. Successful bone marrow transplantation from HLA-identical sibs after pre-transplantation chemotherapy can also be effective gene therapy.