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    Bruton’s disease (hereditary hypogammaglobulinemia)
    (Maltepe Üniversitesi, 2019) Ryzhova, D.; Litvinova, K.; Khimich, T.; Pionova, O.
    Intoduction: Bruton’s disease occurs in approximately 1 in 200,000 newborns. In many cases, it leads to death because of the expensive treatment that is free only until 18 years old. Due to the rare occurrence therefore - the rate of disease detection by a majority of doctors remains low. Case Report: We present patient B. with Bruton’s disease which was manifested at age 6 month. The diagnosis was based on the fact that during his life the patient often suffered from acute respiratory infections, purulent-inflammatory diseases of the respiratory organs, pneumonia. There was also a low level of all serum immunoglobulins (Ig) isotypes. Ig replacement therapy was carried out regularly only up to 18 years. Then he did not receive the necessary therapy because of economic reasons. That’s why he often (3-4 times per year) suffered from severe pneumonia. Ig was injected only during this period. During examination the immune system was determined that cellular immunity intact. But there was a hypogammaglobulinemia. Immunological status: Ig A-0.65g/l, Ig M-0.42g/l, Ig E-1.31g/l. Considering absence of regular replacement therapy the patient was admitted in an intensive care unit in 2012 with extremely severe pneumonia, rising intoxication syndrome and cardio-pulmonary failure which ultimately led to lethal outcome. Results: Bruton’s hypogammaglobulinemia is quite rare disease. It is possible to save patient’s life only using lifelong replacement therapy with a human immunoglobulin. Despite such fairly simple treatment, the death rate is still high. That is mainly due to the fact that such therapy requires huge financial costs, and designed government programs are aimed at helping such patients only age under 18 years. In the future, the life of such patients depends only on the welfare of their family.