Место работы автора, адрес/электронная почта: Республиканская больница N 1 - Национальный центр медицины ; 677010, г. Якутск, ул. Сергеляхское ш., 4 ; https://rb1ncm.ru
Ученая степень, ученое звание: канд. мед. наук
Издательство: ИПК СВФУ
Год выпуска: 2011
Количество страниц: 116 с.
Количество страниц: 4 с.
The article presents 2 clinical cases of congenital central hypoventilation (CCHS) in children in the Republic Sakha (Yakutia). The first case is a child born in 2016; the diagnosis was confirmed at 7 months of age. The second case is a child born in 2018; the diagnosis was confirmed before 1 month of life. In clinical practice, there is often a hypodiagnosis of this disease, which explains the rarity of its definition. Taking into account clinical manifestations and depending on their intensity, early diagnosis prevents undesirable consequences of hypoxia and hypercapnia episodes, provides proper control over asphyxia episodes and determines the disease prognosis. Since CCHS usually manifests itself in the neonatal period and mimics a multitude of diseases, differential diagnosis requires the elimination of a variety of conditions accompanied by alveolar hypoventilation, including congenital myasthenia, a number of myopathies, diaphragm dysfunction, various lung and heart defects
Случаи синдрома врожденной центральной гиповентиляции в Якутии / С. Н. Алексеева, В. Б. Егорова, Г. Б. Ушакова [и другие] // Якутский медицинский журнал. — 2020. — N 1 (69). — С. 121-124. – DOI: 10.25789/YMJ.2020.69.31.
DOI: 10.25789/YMJ.2020.69.31
Количество страниц: 4 с.
The article presents the clinical case of management of a child with a genetic metabolic disease until setting a correct diagnosis propionic acidemia. The full – term child aged 11 days had developed metabolic crisis, which was taken as an expression of neonatal pathology, such as neonatal jaundice, perinatal CNS lesion. On a background of detoxification the patient had the clinical positive dynamics, but a bright period lasted only two weeks. Due to a main disease the child had secondary immunodeficiency, which resulted in recurrent pneumonias. The patient was examined in three ways: changes of peripheral blood – leukopenia, thrombocytopenia, anemia; neurological symptoms – soporous condition, lethargy, refusal of meals, oppression of all reflexes, muscular hypotension; in view of anamnesis, impossibility of a comparison all the clinical symptoms to one diagnosis tap genetic research. The lack of the methodology of tandem mass spectrometry extended the time of correct diagnosis and timely treatment.
Клинический случай пропионовой ацидемии / С. Н. Алексеева, А. Л. Сухомясова, Г. И. Софронова, З. П. Андросова, С. А. Кондратьева, Е. Е. Гуринова, П. В. Павлова // Якутский медицинский журнал. — 2018. — N 3 (63). — С. 99-102 – DO: 10.25789/YMJ.2018.63.32 .
DOI: 10.25789/YMJ.2018.63.32