Результаты ферментозаместительной терапии и трансплантации гемопоэтических стволовых клеток у пациентов с синдромом Гурлер: клинические случаи

Мукополисахаридоз I типа (МПС I) — наследственная болезнь, характеризующаяся снижением активности фермента альфа-L-идуронидазы с последующим накоплением гепаран- и дерматансульфата в лизосомах. Заболевание редкое, распространенность составляет от 0,5 до 4 случаев на 100 000 живорожденных детей. Тип наследования МПС I — аутосомно-рецессивный. В настоящее время доступны два основных метода лечения пациентов с МПС I — трансплантация гемопоэтических стволовых клеток (ТГСК) и ферментозаместительная терапия (ФЗТ). ТГСК может быть лучшим вариантом лечения для пациентов с тяжелой формой МПС I (синдром Гурлер), особенно, если сопровождается ФЗТ в перитрансплантационном периоде. Успешное приживление донорских клеток смягчает многие клинические проявления, связанные в том числе с обструктивными заболеваниями дыхательных путей, гепатоспленомегалией, нарушениями функций сердечно-сосудистую системы. ТГСК предотвращает ухудшение когнитивных функций и другие патологические проявления со стороны центральной нервной системы. Представленные клинические примеры отражают разное течение болезни в зависимости от возраста постановки диагноза, начала ФЗТ и возраста проведения ТГСК.

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