uzspbgmuУчёные записки Первого Санкт-Петербургского государственного медицинского университета имени академика И. П. ПавловаThe Scientific Notes of the Pavlov University1607-41812541-8807Academician I.P. Pavlov First St. Petersburg State Medical University10.24884/1607-4181-2025-32-2-100-112uzspbgmu-1132Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИOBSERVATION FROM PRACTICEХ-сцепленная адренолейкодистрофия: обзор литературы, описание клинических случаевX-linked adrenoleukodystrophy: literature review, description of clinical caseshttps://orcid.org/0009-0006-4855-0265АлексееваВ. А.AlekseevaV. A.

Алексеева Виктория Андреевна, клинический ординатор кафедры неврологии и мануальной медицины факультета последипломного образования

197022, Санкт-Петербург, ул. Льва Толстого, д. 6-8 

Alekseeva Viktoriya A., Clinical Resident of the Department of Neurology and Manual Medicine, Faculty of Postgraduate Education 

6-8, L’va Tolstogo str., Saint Petersburg, 197022 

alekseewa.vika@yandex.ruhttps://orcid.org/0000-0002-1286-7192ГавриченкоА. В.GavrichenkoA. V.

Гавриченко Артур Владимирович, кандидат медицинских наук, врач-невролог неврологического отделения № 2 клиники НИИ неврологии

197022, Санкт-Петербург, ул. Льва Толстого, д. 6-8 

Gavrichenko Artur V., Cand. Sci. (Med.), Neurologist of the Neurological Department № 2 of the Clinic of the Research Institute of Neurology

6-8, L’va Tolstogo str., Saint Petersburg, 197022 

arthyrgavrichenko@gmail.comЯковлевА. А.YakovlevA. A.

Яковлев Алексей Александрович, кандидат медицинских наук, зав. неврологическим отделением № 2 клиники НИИ неврологии

197022, Санкт-Петербург, ул. Льва Толстого, д. 6-8 

Yakovlev Alexey A., Cand. Sci. (Med.), Head of the Neurological Department № 2 of the Clinic of the Research Institute of Neurology

6-8, L’va Tolstogo str., Saint Petersburg, 197022 

yakovlev-aa@mail.ruhttps://orcid.org/0000-0002-3829-9971СоколоваМ. Г.SokolovaM. G.

Соколова Мария Георгиевна, доктор медицинских наук, доцент, профессор кафедры нейрохирургии 

197341, Санкт-Петербург, ул. Аккуратова, д. 2 

Sokolova Mariya G., Dr. Sci. (Med.), Associate Professor, Professor of the Department of Neurosurgery

197341, St. Petersburg, Akkuratova str., 2 

sokolova.m08@mail.ruhttps://orcid.org/0000-0003-3804-3877БаранцевичЕ. Р.BarancevichE. R.

Баранцевич Евгений Робертович, доктор медицинских наук, профессор, зав. кафедрой неврологии и мануальной медицины факультета последипломного образования

197022, Санкт-Петербург, ул. Льва Толстого, д. 6-8 

Barancevich Evgenii R., Dr. Sci. (Med.), Professor, Head of the Department of Neurology and Manual Medicine, Faculty of Postgraduate Education

6-8, L’va Tolstogo str., Saint Petersburg, 197022 

professorerb@mail.ruhttps://orcid.org/0009-0009-1260-4171АбрамоваА. П.AbramovaA. P.

Абрамова Анна Павловна, врач-невролог неврологического отделения № 2

197341, Санкт-Петербург, ул. Аккуратова, д. 2 

Abramova Anna P., Neurologist, Neurological Department № 2 

197341, St. Petersburg, Akkuratova str., 2 

annaabramova301194@gmail.comПервый Санкт-Петербургский государственный медицинский университет имени академика И. П. ПавловаРоссияPavlov UniversityRussian FederationНациональный медицинский исследовательский центр им. В. А. АлмазоваРоссияAlmazov National Medical Research CenterRussian Federation202516092025322100112Copyright © Алексеева В.А., Гавриченко А.В., Яковлев А.А., Соколова М.Г., Баранцевич Е.Р., Абрамова А.П., 20252025Алексеева В.А., Гавриченко А.В., Яковлев А.А., Соколова М.Г., Баранцевич Е.Р., Абрамова А.П.Alekseeva V.A., Gavrichenko A.V., Yakovlev A.A., Sokolova M.G., Barancevich E.R., Abramova A.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.sci-notes.ru/jour/article/view/1132

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.

X-linked adrenoleukodystrophy (X-ALD) is an orphan hereditary disease belonging to the group of peroxisomal diseases with an X-linked recessive type of inheritance, associated with mutations in the ABCD1 gene, characterized by combined damage to the nervous system and adrenal glands. The article provides a review of the literature on this nosology with a description of the etiopathogenesis, clinical picture, diagnostic methods, differential diagnosis and treatment options for this disease. The article describes clinical cases of three patients who were hospitalized in the neurological department № 2 of Pavlov University between 2018 and 2024, based on their complaints, neurological examination data, and laboratory and instrumental diagnostic methods, they were diagnosed with X-ALD. In all the presented clinical cases, more than 3 years passed from the onset of the first symptoms to the final diagnosis, which is due to the difficulty of diagnosing X-ALD at early stages due to the polymorphism of the clinical picture: from classical manifestations of encephalopathy to infrequently encountered manifestations of myelopathy and polyneuropathic syndrome in this nosology. In this regard, timely diagnosis of the disease is important, since effective disease-modifying treatment methods can only be effective if therapy is started in a timely manner.

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The authors declare that there are no conflicts of interest present.