perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”perinatology-184Research ArticleМАТЕРИАЛЫ XII РОССИЙСКОЙ КОНФЕРЕНЦИИ «ПЕДИАТРИЯ И ДЕТСКАЯ ХИРУРГИЯ В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ»МАТЕРИАЛЫ XII РОССИЙСКОЙ КОНФЕРЕНЦИИ «ПЕДИАТРИЯ И ДЕТСКАЯ ХИРУРГИЯ В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ»Галактоземия у детей — редкое наблюдение в практике педиатраGalactosemia: a rare case in pediatric practiceВолгинаС. Я.VolginaS. Ya.

д.м.н., проф. каф. госпитальной педиатрии Казанского государственного медицинского университета

ФаткуллинаР. Г.FatkullinaR. G.

зав. педиатрическим отделением Детской республиканской клинической больницы 420138 Казань, Оренбургский тракт, д. 140

ГлинскаяЕ. С.GlinskayaE. S.

студентка VI курса педиатрического факультета указанного учреждения 420012 Казань, ул. Бутлерова, д. 49

ГБУ ВПО «Казанский государственный медицинский университет»РоссияKazan State Medical UniversityRussian FederationДетская республиканская клиническая больница, КазаньРоссияRepublican Children's Clinical Hospital, KazanRussian Federation201514032016605216219Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/184

Галактоземия — редкое опасное для жизни наследственное аутосомно-рецессивное заболевание, дифференциальная диагностика которого до настоящего времени представляет большие трудности, особенно если по каким-то причинам отсутствуют результаты неонатального скрининга. В статье представлено клиническое наблюдение 10-дневного пациента с классической галактоземией 1-го типа. Отражена важность своевременного диагностического поиска и перевода пациента на безлактозные смеси.

Galactosemia is a rare life-threatening inherited autosomal recessive disease, the differential diagnosis of which has been very difficult up to date, especially if there are no results of neonatal screening for some reasons. The paper describes a clinical case of a 10-day patient with type I classic galactosemia and reflects the importance of a timely diagnostic search and switching him to lactose-free formulas.

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The authors declare that there are no conflicts of interest present.