Особенности офтальмологического фенотипа при наследственных орфанных болезнях почек у детей. Часть 1
Ключевые слова:
Renal-Coloboma синдром, Schuurs- Hoeijmakers синдром, Lowe синдром, болезнь Dent 2, Pierson синдром, Fraser синдром, CHARGE синдромАннотация
Патология органа зрения часто выявляется при наследственных болезнях почек. Период органогенеза как зрительного анализатора, так и почек охватывает 4–6-ю недели гестации. Поэтому нарушения эмбриогенеза в этот период могут вызвать анатомические и функциональные аномалии сразу в двух органах. Офтальмологическое обследование является доступным, неинвазивным методом, который может помочь в диагностике синдромов с сочетанной патологией глаз и почек. В отечественной и зарубежной литературе редко встречаются опубликованные работы по оценке частоты и характера патологии органа зрения у детей с наследственными орфанными болезнями почек. В первой части нашего обзора проанализированы особенности офтальмологического фенотипа при таких наследственных синдромах, как Renal-Coloboma, Schuurs-Hoeijmakers, Lowe, Dent 2, Pierson, Fraser и CHARGE, характеризующихся сочетанной патологией органа зрения и почек.
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