Клинический случай пропионовой ацидемии

Алексеева Саргылана Николаевна, Сухомясова Айталина Лукична, Софронова Гульнара ивановна, Андросова Зинаида Петровна, Кондратьева Саргылана Афанасьевна, Гуринова Елизавета Егоровна, Павлова Прасковья Витальевна
2018 Âkutskij medicinskij žurnal  
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
more » ... 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.
doi:10.25789/ymj.2018.63.32 fatcat:albkhtbgs5d6jjcbhl6ispzryy