http://dspace.bsuedu.ru/handle/123456789/42705
Название: | Rare case of type II glycogen storage disease |
Авторы: | Nagorniy, V. A. Trunova, R. B. Mukhina, T. S. Khabibullin, R. R. Tverskoi, A. V. |
Ключевые слова: | medicine pediatrics neonatology cardiomegalys type II glycogenosis glycogen storage disease Pompe disease |
Дата публикации: | 2015 |
Библиографическое описание: | Rare case of type II glycogen storage disease / V. A. Nagorniy [и др.] // Научный результат. Сер. Медицина и фармация. - 2015. - Т.1, №3(5).-С. 112-117. - doi: 10.18413/2313-8955-2015-112-117. |
Краткий осмотр (реферат): | The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle perceived as posthypoxic. After delivery, the newborn underwent the ultrasound examination and molecular genetic studies. Firstly, the hepatomegaly and cardiomegaly were diagnosed. Then an infantile form of Pompe disease was found. The patient got enzyme replacement therapy without positive result. The death occurred at the age of 2 years and 5 months as a result of cardiovascular disease failure. Macroscopically, the sizes of the internal organs were increased. The microscopic examination demonstrated glycogen deposition in the myocardium, skeletal muscles, mucous membranes of the organs of the gastrointestinal tract, liver, kidney, spleen and adrenal glands |
URI (Унифицированный идентификатор ресурса): | http://dspace.bsu.edu.ru/handle/123456789/42705 |
Располагается в коллекциях: | Т. 1, вып. 3 |
Файл | Описание | Размер | Формат | |
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Nagorniy_Rare_15.pdf | 399.19 kB | Adobe PDF | Просмотреть/Открыть |
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