neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2021-2-1-38-50neurojour-36Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSВитамин D в профилактике и терапии коморбидных состояний при мышечной дистрофии ДюшеннаVitamin D in the prevention and treatment of comorbid conditions in Duchenne muscular dystrophyГремяковаТ. А.GremiakovaTatiana A.noemail@neicon.ruСусловВ. М.SouslovVasiliy M.noemail@neicon.ruСакбаеваГульжан ЕржановнаSakbaevaGulzhan E.

Заведующая детским психоневрологическим отделением ФГБУ «Центральная клиническая больница с поликлиникой» Управления делами Президента РФ, 115211, Москва, Россия.

e-mail: saguer275@gmail.com

Head of the children’s psychoneurological department of the Central Clinical Hospital with a Polyclinic of the Administrative Department of the President of the Russian Federation, Moscow, 115211, Russian Federation.

e-mail: saguer275@gmail.com

saguer275@gmail.comСтепановА. А.StepanovAndrey A.noemail@neicon.ruБлаготворительный фонд «Гордей»; ФГБУ «Центральная клиническая больница с поликлиникой» Управления делами Президента РФCharity Fund «Gordey»; Central Clinical Hospital with a Polyclinic of the Administrative Department of the President of the Russian FederationФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Министерства здравоохранения Российской ФедерацииSaint-Petersburg State Pediatric Medical UniversityФГБУ «Центральная клиническая больница с поликлиникой» Управления делами Президента РФCentral Clinical Hospital with a Polyclinic of the Administrative Department of the President of the Russian Federation202101042021213850Copyright © Гремякова Т.А., Суслов В.М., Сакбаева Г.Е., Степанов А.А., 20212021Гремякова Т.А., Суслов В.М., Сакбаева Г.Е., Степанов А.А.Gremiakova T.A., Souslov V.M., Sakbaeva G.E., Stepanov A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/36

Мышечная дистрофия Дюшенна (МДД) представляет собой Х-сцепленное рецессивное дегенеративное нервно-мышечное расстройство, характеризующееся нарушением синтеза белка дистрофина. Больные МДД имеют повышенный риск развития остеопороза, переломов трубчатых костей и позвонков, зачастую возникают поведенческие и когнитивные расстройства. Витамин D (ВД) рекомендуют принимать при МДД, т.к. в ряде исследований показан его дефицит. 

Цель данной работы — консолидация данных опубликованных исследований о дефиците ВД у больных МДД, его влиянии на развитие сопутствующих МДД коморбидных состояний костно-мышечной, эндокринной и нервной систем. Поддержание оптимального уровня ВД при МДД положительно влияет на течение заболевания и качество жизни больных. Основные клинические результаты устранения дефицита ВД — предупреждение развития остеопороза (особенно после начала приема глюкокортикоидов), переломов трубчатых костей и позвонков, продление способности ходить, бóльшая эффективность терапии бисфосфонатами, включая уменьшение количества осложнений при первичном применении и некрозов нижней челюсти, положительное влияние на выраженность симптомов аутистического спектра. Для больных с многолетней терапией глюкокортикоидами, нарушением метаболизма и вовлечением печени в патологический процесс возможна замена D2 и D3 на кальцидиол для более эффективного восполнения дефицита ВД.

Duchenne muscular dystrophy (DMD) is an X-linked recessive degenerative neuromuscular disorder due to a deficiency of dystrophin protein. This protein is most common in skeletal and cardiac muscles, to a lesser extent in smooth muscles and the brain. With DMD, progressive damage and muscle degeneration, a delay in motor development, and respiratory cardiac disorders are progressing. Patients with DMD have an increased risk of developing osteoporosis, fractures of the tubular bones and vertebrae, and neurocognitive impairment. Vitamin D is recommended prophylactically for DMD since many studies have shown its deficiency.

The purpose of this work is to consolidate the literature data on the vitamin D deficiency in DMD patients and its effects on the development of concurrent comorbid conditions of the musculoskeletal, endocrine, and nervous systems. 

The authors discuss data concerning the appropriate level of vitamin D throughout the life span of DMD has a positive effect on the course of the disease patients’ quality of life ends. Primary clinical outcomes of vitamin D normalization include prevention of the development of osteoporosis (especially after the start of steroid therapy), fractures of the tubular bones and vertebrae, prolonged ability to walk, more effective treatment with bisphosphonates, including a decrease in the number of complications during initial use and lower jaw necrosis, positive effect on the expression of autistic spectrum symptoms. For patients with long-term steroid therapy, metabolic and liver disorders, calcidiol could be used, allowing quick deficiency compensation instead of standard vitamin D preparations.

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