Синдром Донна–Барроу в практике нефролога

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Cиндром Донна–Барроу – мультисистемное заболевание, характеризующееся вариабельным сочетанием врожденных пороков развития, прогрессирующей миопии, нейросенсорной тугоухости, нарушения интеллекта и патологии почек. В статье представлены собственные клинические наблюдения за детьми с синдромом Донна–Барроу, имевшими разный фенотип заболевания, в том числе разные варианты патологии почек. В одном случае пациент имел изолированную низкомолекулярную протеинурию, во втором – протеинурию, гиперкальциурию, нефрокальциноз. Нарушение опосредованного мегалином эндоцитоза, ретроградного эндосомального транспорта лигандов, дисфункция митохондрий, стресс эндоплазматического ретикулума могут приводить к разному спектру и разной степени выраженности тубулярной дисфункции при синдроме Донна–Барроу. Разнообразие клинических проявлений заболевания может обусловливать низкую диагностику синдрома Донна–Барроу и неадекватное ведение пациентов.

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