nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-1596Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИCASE REPORTSИнфантильный нефротический синдром при галактосиалидозеInfantile nephrotic syndrome in an infant with galactosialidosisАксеноваМ. Е.AksenovaM. E.nephrology@pedklin.ruНикишинаТ. А.NikishinaT. A.noemail@neicon.ruИгнатоваМ. С.IgnatovaM. S.noemail@neicon.ruСемячкинаА. Н.SemiachkinaA. N.noemail@neicon.ruНазароваН. Ф.NazarovaN. F.noemail@neicon.ruЦветковаИ. В.ZvetkovaI. V.noemail@neicon.ruМосковский НИИ педиатрии и детской хирургии МЗ и СР РФ, г. МоскваRussian Federation200523062025717376Copyright © Аксенова М.Е., Никишина Т.А., Игнатова М.С., Семячкина А.Н., Назарова Н.Ф., Цветкова И.В., 20252025Аксенова М.Е., Никишина Т.А., Игнатова М.С., Семячкина А.Н., Назарова Н.Ф., Цветкова И.В.Aksenova M.E., Nikishina T.A., Ignatova M.S., Semiachkina A.N., Nazarova N.F., Zvetkova I.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/1596

Представлен редкий случай инфантильного варианта галактосиалидоза с развитием вторичного нефротического синдрома. Показаны современные представления о патогенезе, основных клинических проявлениях и диагностике галактосиалидоза.

A rare clinical case of infantile galactosialidosis with nephrotic syndrome is described. Modern view on pathogenesis, clinical manifestations and diagnostics of this lysosomal storage disorder are presented.

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