Congenital deficiency of surfactant protein c: Literature review and first clinical observations in the russian federation

Surfactant is a complex mixture of phospholipids, neutral lipids and specific surfactant-associated proteins. Genetic diseases associated with gene mutations of surfactant proteins are rare, and treatment options for these children are currently limited. The article presents modern information on congenital deficiency of surfactant protein C, its genetics, pathogenesis, histological patterns, clinical and radiological manifestations in children and adults, outcomes and therapy. It also provides clinical observations of first three pediatric patients in the Russian Federation with this disease, including a rare manifestation in the form of primary pulmonary alveolar proteinosis. © 2018, Pediatria Ltd. All rights reserved.

Авторы
Zhestkova M.A. 1 , Ovsyannikov D. 1, 2 , Kuznetsova A.A.3 , Avdeyev S.N.4 , Akhverdiyeva F.E.2 , Boytsova E.V. 5 , Varichkina M.A.6 , Vishnyakova I.A.2 , Davydova I.V.6 , Illarionova T. 1 , Kovalenko I.V. 2 , Kustova O.V.6 , Makarenko E.V. 1 , Malakhov A.B.4 , Petrova S.I.3 , Petryaykina E.E. 1, 2 , Savostyanov K.V.6 , Skobeyev D.A.2 , Topilin O.G. 2 , Fisenko A.P.6 , Frolov P.A. 1 , Khaldeyeva M.D. 1 , Kharkin A.V.2
Номер выпуска
3
Язык
Русский
Страницы
265-273
Статус
Опубликовано
Том
98
Год
2019
Организации
  • 1 Peoples’ Friendship University of Russia, Moscow, Russian Federation
  • 2 Morozov Children’s City Clinical Hospital, Moscow, Russian Federation
  • 3 Saint Petersburg State Pediatric Medical University, St. Petersburg, Russian Federation
  • 4 I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation
  • 5 Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russian Federation
  • 6 National Medical Research Center of Children’s Health, Moscow, Russian Federation
Ключевые слова
Children; Clinical observations; Congenital deficiency; Genetics; Interstitial lung disease; Pulmonary alveolar proteinosis; Surfactant protein C
Дата создания
24.12.2019
Дата изменения
24.12.2019
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/55215/