perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2022-67-6-58-6perinatology-1743Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESКоморбидная патология у детей со спинальной мышечной атрофией II–III типов на фоне приобретенных деформаций костей скелетаComorbid pathology in children with type II–III spinal muscular atrophy on the background of acquired deformities of the skeleton boneshttps://orcid.org/0000-0002-0964-2718ЕвреиновВ. В.EvreinovV. V.

Евреинов Вадим Викторович - к.м.н., врач–анестезиолог-реаниматолог отделения анестезиологии и реаниматологии

640014 Курган, ул. М. Ульяновой, д. 6

Kurgan

https://orcid.org/0000-0002-6266-9565РазноглядоваЕ. А.RaznoglyadovaE. A.

Разноглядова Елена Александровна - врач–анестезиолог-реаниматолог отделения анестезиологии и реаниматологии

640014 Курган, ул. М. Ульяновой, д. 6

Kurgan

ФГБУ «Национальный медицинский исследовательский центр травматологии и ортопедии им. академика Г.А. Илизарова» Минздрава РоссииРоссияNational Ilizarov Medical Research Centre for Traumatology and OrtopaedicsRussian Federation2022070120236765862Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20232023Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1743

Спинальная мышечная атрофия - тяжелое генетическое заболевание, связанное с нарушением синтеза белка SMN и дегенерацией альфа-мотонейронов в спинном мозге. Развивающиеся нейрогенный кифосколиоз и деформация грудной клетки на фоне симметричной мышечной гипотонии резко ограничивают активность пациентов, усугубляют течение сопутствующих заболеваний.Цель исследования. Определить коморбидный фон у детей со спинальной мышечной атрофией II–III типов, проходивших стационарное лечении по поводу приобретенных деформаций костей скелета.Материалы и методы. Проведен ретроспективный анализ данных за период с 2017 по 2021 г. на основании медицинской документации 31 ребенка. В исследуемую группу вошли 10 девочек и 21 мальчик; 16 детей имели II тип и 15 детей — III тип спинальной мышечной атрофии. Оценивали сопутствующую патологию, неврологический статус, показатели гемодинамики, данные эхокардиографии, спирометрии, лабораторных исследований.Результаты. В нашем исследовании сопутствующая патология была связана с нутритивным статусом (19% пациентов с избыточной массой тела, 29% с недостаточной), задержкой психического развития (3%), гастроэзофагальной рефлюксной болезнью (19%), заболеваниями ЛОР-органов (16%), глаз (19%), сердца и легких (93%). Применение неинвазивной вентиляции легких по жизненным показаниям требовалось 61% детей, откашливателя — 71%. Зарегистрированы ограничения двигательных возможностей на основании шкал HFMSE и GMFCS, дисфагия на основании шкалы EDACS. В биохимиче-ском анализе крови выявлен низкий уровень креатинина.Заключение. Пациентам со спинальной мышечной атрофией требуется междисциплинарный подход в диагностике, лечении и реабилитации. Применение объективных оценочных шкал, инструментальных и лабораторных методов исследования позволяют проводить всесторонний анализ потенциала детей со спинальной мышечной атрофией, подбирать эффективные, ориентированные на семью схемы терапии. Оценка сывороточного креатинина в качестве биомаркера тяжести денервации мышц дает возможность мониторировать прогрессирование спинальной мышечной атрофии и прогнозировать ответ на лечение.

Spinal muscular atrophy (SMA) is a severe genetic disease associated with impaired SMN protein synthesis and degeneration of alpha motor neurons in the spinal cord. Developing neurogenic kyphoscoliosis and deformity of the chest against the background of symmetrical muscular hypotension sharply limit the activity of patients, worsening the concomitant diseases.Purpose. The study aims at determining the comorbid background of children with type II–III spinal muscular atrophy who underwent inpatient treatment for acquired skeletal bone deformities.Material and methods. A retrospective analysis of the data was carried out for the period from 2017 to 2021 based on the medical records of 31 children. The study group included 10 girls and 21 boys; 16 children were with type II and 15 — with type III spinal muscular atrophy. The following were assessed: comorbidity, neurological status, hemodynamic parameters, echocardiography, spirometry, laboratory research data.Results. In our study, comorbidity was associated with nutritional status (19% of patients overweight, 29% underweight), mental retardation (3%), gastroesophageal reflux disease (19%), diseases of the ENT organs (16%), eyes (19%), heart and lungs (93%). For health reasons, 61% of children required the use of non-invasive ventilation, and 71% of insufflator-aspirators. Limited motor abilities were registered based on the HFMSE and GMFCS scales, dysphagia based on the EDACS scale. A biochemical blood test revealed a low level of creatinine.Conclusion. Patients with spinal muscular atrophy require multidisciplinary care in diagnosis, treatment and rehabilitation. The use of objective rating scales, instrumental and laboratory methods of examination allow for a comprehensive analysis of the potential of children with spinal muscular atrophy, to select effective, family-oriented treatment regimens. Serum creatinine as a biomarker for the severity of muscle denervation makes it possible to monitor the progression of spinal muscular atrophy and predict response to treatment.

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