Сосудистый тип синдрома Элерса–Данло

M. V. Gubanova1, L. A. Dobrynina1, L. A. Kalashnikova1
1ФГБНУ «Научный центр неврологии» (Москва), Россия

Аннотация


Синдром Элерса–Данло (СЭД) IV (сосудистого) типа – редкое наследственное аутосомно-доминантное заболевание соединительной ткани, возникающее в результате мутации в гене проколлагена-III (COL3A1). Пациенты с этим синдромом склонны к разрывам артерий и полых органов. Среди всех вариантов СЭД IV тип составляет примерно от 5 до 10% случаев. Сосудистые осложнения могут проявиться во всех анатомических областях, с тенденцией к поражению артерий крупного и среднего диаметра. Типичными осложнениями являются: диссекция позвоночных и сонных артерии на экстра- и интракраниальном уровнях, каротидно-кавернозная фистула, аневризма. Диагноз ставится на основании больших и малых клинических критериев и может быть подтвержден лабораторно – выявлением количественного или качественного нарушения синтеза коллагена III типа культивируемыми фибробластами или идентификацией мутации в гене COL3A1. К инвазивным методам диагностики и хирургическим вмешательствам следует прибегать в случаях возникновения потенциально опасных для жизни осложнений. В настоящее время не существует специфического лечения СЭД. Результаты исследования с использованием β-блокатора целипролола продемонстрировали снижение сосудистых осложнений при СЭД IV типа. Ингибиторы ренин-ангиотензиновой системы и средства, уменьшающие концентрацию трансформирующего фактора роста-β, открывают новые перспективы консервативного лечения данной патологии и улучшают прогноз на ближайшее будущее.

Ключевые слова

синдром Элерса–Данло IV типа; сосудистый тип; ген COL3A1; коллаген; мутация; диссекция;аневризма

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Литература

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