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”10.21508/1027-4065-2021-66-5-233-239perinatology-1511Research ArticleК XVIII РОССИЙСКОМУ КОНГРЕССУ «ПЕДИАТРИЯ И ДЕТСКАЯ ХИРУРГИЯ В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ». В ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУРанняя диагностика мукополисахаридоза III типа (синдрома Санфилиппо) в практике педиатраEarly diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome) in the practice of a pediatricianhttps://orcid.org/0000-0002-4147-2309ВолгинаС. Я.VolginaS. Ya.

Волгина Светлана Яковлевна – д.м.н., проф. кафедры госпитальной педиатрии

420012 Казань, Бутлерова, д. 49

Kazan

Volgina_Svetlana@mail.ruhttps://orcid.org/0000-0002-8667-5476СпиридоноваО. А.SpiridonovaO. A.

Спиридонова Ольга Алексеевна – студентка VI курса педиатрического факультета

420012 Казань, Бутлерова, д. 49

Kazan

https://orcid.org/0000-0003-0873-8037КурмаеваЕ. А.KurmaevaE. A.

Курмаева Елена Анатольевна – к.м.н., доц. кафедры госпитальной педиатрии

420012 Казань, Бутлерова, д. 49

Kazan

https://orcid.org/0000-0002-8582-592XГамироваР. Г.GamirovaR. G.

Гамирова Римма Габдульбаровна – к.м.н., доц. кафедры фундаментальных основ клинической медицины, ст. науч. сотр. НИЛ «Клиническая лингвистика»

420008 Казань, ул. Кремлевская, д. 18

Kazan

https://orcid.org/0000-0002-6528-1873ПоляковаС. И.PolyakovaS. I.

Полякова Светлана Игоревна – д.м.н., проф. кафедры госпитальной педиатрии им. В.А. Таболина

117997 Москва, ул. Островитянова, д. 1

Moscow

ФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииРоссияKazan State Medical UniversityRussian FederationФГАОУ ВО «Казанский (Приволжский) федеральный университет»РоссияKazan (Volga Region) Federal UniversityRussian FederationФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииРоссияPirogov Russian National Research Medical UniversityRussian Federation202109122021665233239Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20212021Ltd. “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/1511

Мукополисахаридоз III типа (синдром Санфилиппо) – лизосомная болезнь накопления, которая наследуется по аутосомно-рецессивному типу, характеризуется накоплением гепарансульфата в клетках организма, что приводит к развитию полиорганной недостаточности. Встречается с частотой 1:70 тыс. новорожденных. Выделяют 4 подтипа заболевания: A, B, C, D. Наиболее ранними симптомами болезни служат когнитивные и неврологические расстройства. Отмечаются задержка (потеря) речевого развития, регресс приобретенных навыков, гиперреактивность, аутистические черты характера, умственная отсталость, нарушение сна, эпилепсия; формируется агрессивное поведение, нарушается способность к передвижению, появляется гепатомегалия. Возможны нарушения других органов и систем – органов зрения, костной, дыхательной, сердечно-сосудистой систем, ЛОР-органов, наблюдаются стоматологические проблемы. Клинически подтипы мукополисахаридоза III практически не различимы. Возраст постановки диагноза в среднем составляет 2–6 лет. Диагностический поиск включает проведение качественного и количественного определения гликозаминогликанов в моче. Следует помнить, что при легких вариантах течения болезни эти показатели могут быть в пределах нормы. В дальнейшем необходимо оценить активность соответствующих ферментов в лейкоцитах, плазме или сыворотке крови, в фибробластах кожи. Затем проводится генетическое исследование для выявления мутации соответствующего дефектного гена. Дифференциальную диагностику следует проводить с другими видами мукополисахаридозов, муколипидозами, ганглиозидозами, множественной сульфатазной недостаточностью, некоторыми ревматоидными заболеваниями.

Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a lysosomal storage disease inherited in an autosomal recessive manner, it is characterized by the accumulation of heparan sulfate in the cells of the body, which leads to the development of multiple organ failure. It occurs with a frequency of 1: 70 thousand newborns. There are 4 subtypes of the disease: A, B, C, D. Cognitive and neurological disorders are the earliest symptoms of the disease. Delay (loss) of speech development, regression of acquired skills, hyperreactivity, autistic character traits, mental retardation, sleep disturbance, epilepsy are noted; aggressive behavior is formed, the ability to move is impaired, hepatomegaly appears. There are observed the violations of other organs and systems – the organ of vision, bone, respiratory, cardiovascular systems, ENT organs, dental problems. Clinically, the subtypes of mucopolysaccharidosis III are practically indistinguishable. The average age at diagnosis is 2–6 years. Diagnostic search includes qualitative and quantitative determination of glycosaminoglycans in urine. It should be remembered that with mild variants of the disease, these indicators may be within the normal range. In the future, it is necessary to assess the activity of the corresponding enzymes in leukocytes, plasma or serum, in skin fibroblasts. Genetic testing is then performed to identify the mutation of the corresponding defective gene. Differential diagnosis should be carried out with other types of mucopolysaccharidosis, mucolipidosis, gangliosidosis, multiple sulfatase deficiency, some rheumatoid diseases.

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