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Том 16 №2 2014 год - Нефрология и диализ
Клинико-генетическая гетерогенность cтероид-резистентного нефротического синдрома у детей (Обзор литературы)
Приходина Л.С.
Аннотация: 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.
Для цитирования: Приходина Л.С. Клинико-генетическая гетерогенность cтероид-резистентного нефротического синдрома у детей (Обзор литературы). Нефрология и диализ. 2014. 16(2):236-254. doi:
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Ключевые слова: дети,
стероид-резистентный нефротический синдром,
гены,
наследственные синдромы,
children,
steroid-resistant nephrotic syndrome,
genes,
inherited syndromesСписок литературы:- Вашурина Т.В., Зробок О.И., Маргиева Т.В. и соавт. Редкая форма митохондриопатии, обусловленной дефицитом коэнзима Q: стероид-резистентный нефротический синдром вследствие мутации CoQ6 // Нефрология и диализ. 2012. Т. 14. №2. С. 133-136.
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