Современные подходы к ведению детей с мукополисахаридозом I типа

В статье представлены современные сведения об эпидемиологии, этиологии и клинических проявлениях мукополисахаридоза (МПС) I типа у детей. МПС развивается в результате дефицита того или иного лизосомального фермента, что определяет тип болезни. В статье подробно рассмотрены вопросы патогенеза и классификации заболевания. Освещены основанные на доказательной медицине подходы к диагностике, в том числе дифференциальной, особое внимание уделено патогенетическому, симптоматическому, хирургическому лечению МПС.

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