Х-сцепленная адренолейкодистрофия: обзор литературы, описание клинических случаев

Х-сцепленная адренолейкодистрофия (Х-АЛД) – орфанное наследственное заболевание, относящееся к группе пероксисомных болезней с Х-сцепленным рецессивным типом наследования, связанное с мутациями гена ABCD1 и характеризующееся сочетанным поражением нервной системы и надпочечников. В статье приводится обзор литературы по данной нозологии с описанием этиопатогенеза, клинической картины, методов диагностики, дифференциального диагноза и возможностей лечения данного заболевания. Описаны клинические случаи троих пациентов, госпитализированных в неврологическое отделение № 2 клиники НИИ неврологии ПСПбГМУ им. И. П. Павлова за период 2018–2024 гг., которым на основании жалоб, данных неврологического осмотра, лабораторных и инструментальных методов диагностики был выставлен диагноз Х-АЛД. Во всех представленных клинических случаях с момента дебюта первых симптомов до постановки окончательного диагноза прошло более 3 лет, что связано с трудностью диагностики Х-АЛД на ранних этапах ввиду полиморфизма клинической картины: от классических проявлений энцефалопатии до нечасто встречающихся проявлений миелопатии и полиневропатического синдрома при данной нозологии. В связи с этим важна своевременная диагностика заболевания, поскольку эффективные методы лечения, модифицирующие заболевания, могут быть эффективными только при своевременно начатой терапии.

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