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.

Authors
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
Journal
Pediatriya - Zhurnal im G.N. Speranskogo
Number of issue
3
Language
Russian
Pages
265-273
Status
Published
Link
External link
DOI
10.24110/0031-403X-2019-98-3-265-273
Volume
98
Year
2019
Organizations
  • 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
Keywords
Children; Clinical observations; Congenital deficiency; Genetics; Interstitial lung disease; Pulmonary alveolar proteinosis; Surfactant protein C
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