Селективный скрининг и молекулярная характеристика российских пациентов с болезнью Помпе

Введение. Болезнь Помпе (БП), или гликогеноз II типа — редкая мультисистемная наследственная болезнь накопления, вызываемая дефицитом фермента кислой мальтазы (кислой альфа-1,4-глюкозидазы), сниженная активность которой приводит к накоплению гликогена в различных органах и тканях организма.

Цель исследования — разработка высокопроизводительного метода ранней биохимической диагностики БП и оптимизация её молекулярно-генетической диагностики.

Материал и методы. Характеристика относительных частот и спектра выявленных мутаций были изучены при использовании выборки из 7670 пациентов с подозрением на БП, поступивших в ФГАУ «НМИЦ здоровья детей» в рамках селективного скрининга, а также 8 пациентов с БП, лабораторный диагноз которым был поставлен вне рамок данного скрининга.

Результаты. В результате селективного скрининга БП у российских пациентов из групп высокого риска выявляемость составила 0,47%. Приведены клинические и возрастные характеристики детей и взрослых с БП, а также вычислены относительные частоты и охарактеризован спектр 47 патогенных вариантов гена GAA, ответственных за возникновение и развитие БП, у 44 пациентов. Выявлены и изучены 17 новых мутаций гена GAA, не описанные ранее, что пополняет базу данных HGMD на 2,7%. 

Заключение. Предложена оптимизация алгоритма молекулярной диагностики БП у российских пациентов.

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