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”perinatology-252Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSПоражение сердца при мукополисахаридозахHeart damage in mucopolysaccharidosisДовганьМ. И.DovganM. I.

детский кардиолог того же отдела

БелозеровЮ. М.BelozerovYu. M.

д.м.н., проф., гл.н.с. отдела патологии сердечно-сосудистой системы Научно-исследовательского клинического института педиатрии

СемячкинаА. Н.SemyachkinaA. N.

д.м.н., гл.н.с. отдела психоневрологии и наследственных заболеваний с нарушением психики того же института 125412 Москва, ул. Талдомская, д. 2

Научно-исследовательский клинический институт педиатрии, МоскваРоссияResearch Clinical Institute of Pediatrics, MoscowRussian Federation2014160320165932231Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “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/252

Представлены данные литературы, отражающие вопросы современной классификации, генеалогии, клинических проявлений, диагностики, лечения и профилактики одной из наиболее частых нозологических форм лизосомных болезней накопления — мукополисахаридозов. Особое внимание уделено патологии сердечно-сосудистой системы при данной группе заболеваний. Установлено, что поражение сердца является одним из кардинальных признаков мукополисахаридозов, нередко приводящим к довольно ранним летальным исходам. Патология сердца зарегистрирована при всех типах мукополисахаридозов, однако она наиболее значима для больных с тремя клиническими вариантами синдрома ГУрлер, синдромами Хантера и Марото—Лами. Согласно данным литературы, характерными признаками поражения сердечно-сосудистой системы при мукополисахаридозах следует считать: утолщение клапанов с развитием их дисфункции (при этом тяжесть поражения левосторонних клапанов более выражена), гипертрофию миокарда, нарушение проводимости, поражение коронарных артерий, артериальную гипертензию. Многие исследователи подчеркивают трудности клинико-функционального обследования сердечно-сосудистой системы у больных с мукополисахаридозами, что обусловлено наличием физических и интеллектуальных ограничений у пациентов, а также постепенным нарастанием симптоматики. Для лечения сердечно-сосудистой патологии при мукополисахаридозах используются медикаментозные и хирургические методы. В последние годы наибольшую актуальность приобретают заместительная ферментотерапия и трансплантация гемопоэтических стволовых клеток. Данные методы могут остановить прогрессирование заболевания, способствовать регрессу гипертрофии желудочков и стабилизации функции левого желудочка.

The paper gives the data available in the literature on the current classification, genealogy, clinical manifestations, diagnosis, treatment, and prevention of mucopolysaccharidosis, one of the most common nosological entities of lysosomal storage diseases. Particular emphasis is laid on cardiovascular pathology in this group of diseases. Heart damage is ascertained to be one of the cardinal signs of mucopolysaccharides frequently leading to rather early fatal outcomes. Cardiac pathology is notified in all types of muco-polysaccharidoses; however, it is most important for patients with three clinical variants of Hurler syndrome, Hunter syndrome, and Maroteaux-Lamy syndrome. According to the data available in the literature, the characteristic signs of cardiovascular system damage in mucopolysaccharides should be considered to be: thickening of the valves with the development of their dysfunction (the severity of left-sided valve lesion being more pronounced), myocardial hypertrophy, conduction disturbance, coronary artery lesion, and arterial hypertension. Many investigators emphasize difficulties in clinically and functionally examining the cardiovascular system in patients with mucopolysaccharides, which is due to physical and intellectual limitations in the patients and to a gradual progression of symptoms. Medical and surgical methods were used to treat cardiovascular disease in mucopolysaccharides. Enzyme replacement therapy and hematopoietic stem cell transplantation have become much more topical in the past years. These methods may stop disease progression and favor regression of ventricular hypertrophy and stabilization of left ventricular function.

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