References

nid

Нефрология и диализ

Nephrology and Dialysis

1680-44222618-9801

Российское диализное общество

nid-542

Research Article

ОБЗОРЫ И ЛЕКЦИИ

REVIEWS AND LECTURES

Клинико-генетическая гетерогенность cтероид-резистентного нефротического синдрома у детей (Обзор литературы)

Clinical-genetic heterogeneity of steroid-resistant nephrotic syndrome in children

Приходина

Л. С.

Prikhodina

L. S.

prikhodina@rambler.ru

ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова», Научно-исследовательский клинический институт педиатрии, Минздрава России, Москва; ГБОУ ДПО «Российская медицинская академия последипломного образования»РоссияThe Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Ministry of Health, Moscow; The Russian Medical Academy of Postgraduate Medical EducationRussian Federation

2014

13092024

162236254

2024

Приходина Л.С.

Prikhodina L.S.

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/542

В обзоре представлены современные литературные сведения о клинико-генетической гетерогенности стероид-резистентного нефротического синдрома у детей, как спорадических случаев, так и в составе ряда наследственных синдромов с характерными экстраренальными проявлениями. Обращается внимание на различный спектр генов, ассоциированных со стероид-резистентным нефротическим синдромом в зависимости от возраста манифестации заболевания, семейного характера патологии, морфологических вариантов и наличия характерных экстраренальных проявлений. Освещаются генотип-фенотипические ассоциации и потенциальная взаимосвязь с эффективностью иммуносупрессивной терапии стероид-резистентного нефротического синдрома в детском возрасте.

The review presents up-to-date data about genetic heterogeneity of steroid-resistant nephrotic syndrome in children including sporadic cases and inherited syndromes with kidney involvement. Different spectrum of genes associated with pediatric steroid-resistant nephrotic syndrome is manifested depending on the age of onset, family history of disease, histological types and the presence of typical extra-renal signs. The genotype-phenotype associations and potential link with efficacy of immunosuppressive treatment of steroid-resistant nephrotic syndrome in children are discussed.

детистероид-резистентный нефротический синдромгенынаследственные синдромыchildrensteroid-resistant nephrotic syndromegenesinherited syndromes

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