Vojnosanitetski pregled · 2006
[Morbus gaucher--a report of two cases].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Dokić Milomir
Аннотация
BACKGROUND: [corrected] Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918). Deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte macrophage system. Lipid-laden cells, known as Gaucher cells, lead to hepatosplenomegaly, multiorgan dysfunction and sceletal deterioration.
CASE REPORT: We reported a 36-year-old male and a 42-year-old female admitted for the clinical examination due to hepatosplenomegaly. The Clinical diagnosis was provided by a bone marrow examination and demonstration of the characteristic Gaucher cells. Both of the patients had type I Gaucher's disease (a mild form of the disease), wich is distiguished by the lack of central nervous system involvement and striking phenotypic variation. We had not a possibility of testing beta-glucocerebrosidase activity in peripheral leukocytes (a definitive diagnosis of Gaucher's disease). Also, enzyme replacement therapy had not been available in our country.
CONCLUSION: Althoungh rare, Gaucher's disease is also present in our country. Both molecular genetic, and the enzyme beta-glucocerebrosidase activity testing in peripheral leukocytes are needed for the definitive diagnosis of this disease.
CASE REPORT: We reported a 36-year-old male and a 42-year-old female admitted for the clinical examination due to hepatosplenomegaly. The Clinical diagnosis was provided by a bone marrow examination and demonstration of the characteristic Gaucher cells. Both of the patients had type I Gaucher's disease (a mild form of the disease), wich is distiguished by the lack of central nervous system involvement and striking phenotypic variation. We had not a possibility of testing beta-glucocerebrosidase activity in peripheral leukocytes (a definitive diagnosis of Gaucher's disease). Also, enzyme replacement therapy had not been available in our country.
CONCLUSION: Althoungh rare, Gaucher's disease is also present in our country. Both molecular genetic, and the enzyme beta-glucocerebrosidase activity testing in peripheral leukocytes are needed for the definitive diagnosis of this disease.