nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2023-27-4-34-42OEDSMLnefr-2266Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESУрологические нарушения при адренолейкодистрофии / адреномиелонейропатииUrological disorders in adrenoleukodystrophy / adrenomyeloneuropathyhttps://orcid.org/0000-0003-0187-0457ХудяковаН. В.KhudyakovaN. V.

Доцент Худякова Наталья Валерьевна кандидат медицинских наук, кафедра факультетской терапии.

199106, Cанкт-Петербург, 21-я линия ВО, д. 8а. Тел.: +7 (812) 326-03-26

Associate professor Khudiakova Natalia Valerevna - MD, PhD Department of Internal Diseases.

199106, St-Peterburg, 21 line VO 8a, Phone: +7 (812) 326-03-26

natalia_temnaja@mail.ruhttps://orcid.org/0000-0001-8529-3890ПчелинИ. Ю.PchelinI. Yu.

Доцент Пчелин Иван Юрьевич - кандидат медицинских наук, кафедра факультетской терапии.

199106, Россия, Cанкт-Петербург, 21-я линия ВО, д. 8а. Тел.: +7 (812) 326-03-26

Associate professor Pchelin Ivan Yurevich - MD, PhD, Department of Internal Diseases.

199106, St-Peterburg, 21 line VO 8a. Phone: +7 (812) 326-03-26

ewan2008@bk.ruhttps://orcid.org/0000-0001-5111-2131ШишкинА. Н.ShishkinA. N.

Профессор Шишкин Александр Николаевич - доктор медицинских, кафедра факультетской терапии.

199106, Cанкт-Петербург, 21-я линия ВО, д. 8а. Тел.: +7 (812) 326-03-26

Professor Shishkin Alexander Nikol aevich - MD, PhD, DMedSci Department of Internal Diseases.

199106, Russia, St-Peterburg, 21 line VO 8a, Phone: +7 (812) 326-03-26

alexshishkin@bk.ruhttps://orcid.org/0000-0002-1915-2237МазуренкоС. О.MazurenkoS. O.

Профессор Мазуренко Сергей Олегович - доктор медицинских наук, кафедра пропедевтики внутренних болезней.

199106, Cанкт-Петербург, 21-я линия ВО, д. 8а. Тел.: +7 (812) 32603-26

Professor Mazurenko Sergey Olegovich - MD, PhD, DMedSci Department of Internal Diseases.

199106, St-Peterburg, 21 line VO 8a, Phone: +7 (812) 326-03-26

dr_mazurenko@mail.ruhttps://orcid.org/0000-0003-3429-1814ВоловниковаВ. А.VolovnikovaV. A.

Доцент Воловникова Виктория Александровна - кандидат медицинских наук, кафедра факультетской терапии.

199106, Cанкт-Петербург, 21-я линия ВО, д. 8а. Тел.: +7 (812) 326-03-26

Associate professor Volovnikova Victoriia Alexandrovna - MD, PhD Department of Internal Diseases.

199106, St-Peterburg, 21 line VO 8a, Phone: +7 (812) 326-03-26

vict.volovnikova@yandex.ruhttps://orcid.org/0000-0003-4696-9290ИвановН. В.IvanovN. V.

Доцент Иванов Никита Владимирович - кандидат медицинских наук, кафедра эндокринологии им. академика В.Г. Баранова.

191015, Санкт-Петербург, ул. Кирочная, д. 41В. Тел.: +7 921-969-14-21

Associate Professor Ivanov Nikita Vladimirovich - MD, PhD, Department of Endocrinology n.a. Academician V.G.Baranov, PhD.

199106, St-Peterburg, Kirochnaya 41B, Phone: +7 921 969 14 21

baltic.forum@gmail.comhttps://orcid.org/0000-0002-0253-4132СмирновВ. В.SmirnovV. V.

Доцент Смирнов Виктор Владимирович - кандидат медицинских наук, кафедра госпитальной терапии с курсом эндокринологии.

194100, Санкт-Петербург, ул. Литовская, д. 2. Тел.: +79210958072

Associate Professor Smirnov Victor Vladimirovich - MD, PhD. Department of Hospital Therapy with a Course of Endocrinology.

194100 St-Peterburg, Litovskaya street 2, Phone: +7 9210958072

vs@tdom.bizhttps://orcid.org/0000-0002-6956-9014ВасильковаО. Н.VasilkovaV. N.

Доцент Василькова Ольга Николаевна - кандидат медицинских наук, кафедра внутренних болезней №1 с курсами эндокринологии и гематологии.

246000, Гомель, Ланге д. 5. Тел.: +37529 730-10-27

Associate professor Vasilkova Volha Nikolaevna - MD, PhD Department of Internal Diseases №1 with courses of Endocrinology and Haemotology.

246000, Gomel, Lange 5, Phone: +37829 730-10-27

olga.n.vasilkova@gmail.comСанкт-Петербургский государственный университетРоссияSaint-Petersburg State UniversityRussian FederationСеверо-Западный государственный медицинский университет им. И.И. МечниковаРоссияNorth-Western State Medical University n.a. I.I.MechnikovRussian FederationСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian FederationГомельский государственный медицинский университетРоссияGomel State Medical UniversityRussian Federation2023021220232743442Copyright © Худякова Н.В., Пчелин И.Ю., Шишкин А.Н., Мазуренко С.О., Воловникова В.А., Иванов Н.В., Смирнов В.В., Василькова О.Н., 20232023Худякова Н.В., Пчелин И.Ю., Шишкин А.Н., Мазуренко С.О., Воловникова В.А., Иванов Н.В., Смирнов В.В., Василькова О.Н.Khudyakova N.V., Pchelin I.Y., Shishkin A.N., Mazurenko S.O., Volovnikova V.A., Ivanov N.V., Smirnov V.V., Vasilkova V.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/2266

Адренолейкодистрофия (АЛД) – наиболее часто встречающееся пероксисомное заболевание с Х-сцепленным рецессивным типом наследования, вызванное мутацией в гене ABCD 1, локализующимся в Xq28 хромосоме. Характерной особенностью АЛД является отсутствие корреляции между генотипом и фенотипом. В зависимости от времени дебюта, основных проявлений, скорости нарастания симптоматики выделяют 6 основных форм заболевания, но наиболее часто встречающейся является адреномиелонейропатия (АМН). При тщательном обследовании пациентов с АМН в большинстве случаев можно выявить урологическую патологию, проявляющуюся гиперактивным мочевым пузырем у обоих полов и гипогонадизмом у мужчин, которые скрываются за другой многочисленной неврологической симптоматикой и часто остаются недиагностированными. На сегодняшний день мало работ, посвященных разбору особенностей патогенеза, клинического течения, диагностики и лечения данной патологии при АЛД. В данной статье мы провели обзор современных литературных данных по нейрогенной дисфункции мочевого пузыря и гипогонадизма при АМН.

Adrenoleukodystrophy (ALD) is the most common peroxisomal disease of X-linked recessive inheritance caused by a mutation in the ABCD 1 gene located on chromosome Xq28. A characteristic feature of ALD is the lack of correlation between genotype and phenotype. Depending on the time of onset, the main manifestations, and the rate of symptom progression, there are 6 main forms of the disease, but the most common is adrenomyeloneuropathy (AMN). When carefully examining patients with AMI, in most cases it is possible to identify urological pathology manifested by overactive bladder in both sexes and hypogonadism in men, which are hidden behind other numerous neurological symptoms and often remain undiagnosed. To date, there are few works devoted to the peculiarities of pathogenesis, clinical course, diagnosis and treatment of this pathology in ALD. In this article, we reviewed the current literature data on neurogenic bladder dysfunction and hypogonadism in ALD.

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