Церебросухожильный ксантоматоз

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Аннотация

Церебросухожильный ксантоматоз – редкое аутосомно-рецессивное нарушение обмена холестерина и желчных кислот, связанное с геном стерол 27-гидроксилазы CYP27A1. Болезнь характеризуется варьирующим возрастом начала, прогрессирующим течением, широким спектром неврологических и экстраневральных симптомов. Важная диагностическая роль принадлежит МРТ мозга. Методы верификации – определение холестанола в сыворотке и анализ ДНК. Своевременно начатое заместительное лечение хенодезоксихолевой кислотой позволяет замедлить прогрессирование, в части случаев – предотвратить неврологическую инвалидизацию.

Об авторах

Галина Евгеньевна Руденская

ФГБНУ «Медико-генетический научный центр им. Н.П. Бочкова»

Email: rudenskaya@med-gen.ru
Россия, Москва

Екатерина Юрьевна Захарова

ФГБНУ «Медико-генетический научный центр им. Н.П. Бочкова»

Автор, ответственный за переписку.
Email: rudenskaya@med-gen.ru
Россия, Москва

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