DISEASES ASSOCIATED WITH MUTATIONS IN THE FILAMIN A GENE: THE DIFFICULT PATH TO DIAGNOSIS (TWO CLINICAL CASES)

The article presents the first descriptions of observations in the Russian Federation, the difficult path to diagnosis in two young girls with diseases associated with mutations in the filamin A gene, characterized by damage to the central nervous system (periventricular nodular heterotopy), lungs (interstitial emphysematous lesion due to impaired growth), cardiovascular system (open arterial duct, high pulmonary hypertension, insufficiency of heart valves, large vessels). Clinical and anamnestic data, the results of laboratory and instrumental diagnostic methods, including molecular genetic ones, which allowed to identify unique, previously undescribed mutations, the characteristics of the course of the disease, the treatment being carried out, are presented. © The Authors.

Авторы
Ovsyannikov D.Y. 1, 2 , Kotlukova N.P.3 , Telezhnikova N.D.4 , Trunina I.I.3, 4 , Miklashevich I.M.3 , Shcherbakova N.V.3 , Zaklyaz’minskaya E.V.5 , Shestak A.G.5 , Basargina E.N.6 , Savost’yanov K.V.6 , Zhestkova M.A. 1 , Karpenko M.A. 1 , Illarionova T.Yu. 1 , Gazalieva L.R.3 , Ksandopulo E.M. 1 , Mamaeva E.A.7 , Abramyan M.A. 1, 2 , Miroshnichenko V.P.2 , Gorev V.V.2 , Fisenko A.P.6
Номер выпуска
1
Язык
Русский
Страницы
202-208
Статус
Опубликовано
Том
101
Год
2022
Организации
  • 1 Peoples’ Friendship University of Russia, Russian Federation
  • 2 Morozov Children’s City Clinical Hospital, Russian Federation
  • 3 Pirogov Russian National Research Medical University, Russian Federation
  • 4 Children’s City Clinical Hospital named after Z.A. Bashlyaeva, Russian Federation
  • 5 Russian Scientific Center of Surgery named after Academician B.V. Petrovsky, Russian Federation
  • 6 National Medical Research Center for Children’s Health, Moscow, Russian Federation
  • 7 Almazov National Medical Research Center, Saint Petersburg, Russian Federation
Ключевые слова
congenital heart disease; filamin A; FLNA gene mutations; periventricular nodular heterotopy
Дата создания
06.07.2022
Дата изменения
06.07.2022
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/84074/
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