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”10.21508/1027-4065-2017-62-5-119-123perinatology-561Research ArticleНАСЛЕДСТВЕННЫЕ БОЛЕЗНИHEREDITARY DISEASESСемейная гиперхолестеринемия у детей: клинические проявления, диагностика, лечениеFamily hypercholesterolaemia at children: clinic, diagnostics, treatmentСадыковаД. И.SadykovaD. I.

д.м.н., проф., зав. кафедрой педиатрии с курсом поликлинической педиатрии Казанской государственной медицинской академии

420012 Казань, ул. Муштари, д. 11

ГалимоваЛ. Ф.GalimovaL. F.

к.м.н., врач функциональной диагностики Детской республиканской клинической больницы

420138 Казань, ул. Оренбургский тракт, д. 140

Казанская государственная медицинская академия – филиал ФГБОУ РМАНПО Минздрава РоссииРоссияKazan State Medical AcademyRussian FederationГАУЗ «Детская республиканская клиническая больница» Минздрава Республики ТатарстанРоссияChildren’s Republican Clinical Hospital, Ministry of Health of the Republic of TatarstanRussian Federation201711112017625119123Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20172017Ltd. “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/561

Семейные гиперхолестеринемии – группа генетических нарушений, которые приводят к значительному повышению уровня холестерина в крови и возрастанию риска раннего развития атеросклероза и, следовательно, к увеличению смертности от ишемической болезни сердца. Семейная гиперхолестеринемия – одно из самых распространенных метаболических нарушений, возникающее у человека уже с рождения. Большое значение имеет ранняя диагностика, так как выявление заболевания еще в детском возрасте позволит начать своевременное лечение и предупредить формирование сердечно-сосудистой патологии в будущем. Приводятся критерии фенотипической и генетической диагностики семейной гиперхолестеринемии. Несмотря на бурный интерес к этому заболеванию во всем мире, в России оно остается малоизученным, особенно среди детского населения. Отсутствуют система выявления, маршрутизации обследования, наблюдения и учета больных детей, отмечается низкий уровень генетического консультирования. Это свидетельствует о необходимости существенного улучшения информированности и понимания данной патологии как в обществе, так и среди медицинских работников.

The Family Hypercholesterolaemias (FH) are a group of genetic disorders which lead to substantial increase of level of a cholesterol in a blood and an increased risk of early development of atherosclerosis and, therefore, increased mortality from coronary heart disease. FH – one of the most common metabolic disorders that occurs at the person already since the birth. Early diagnostics as identification of FH at children’s age will allow to begin early treatment is of great importance and to prevent development of cardiovascular pathology in the future. Criteria of phenotypical and genetic diagnostics of FH are given in article. Despite rough interest in this disease around the world, in Russia it remains poorly studied, especially among the children’s population. There is no detection system, routing of inspection, observation and registration of sick children, the low level of genetic consultation becomes perceptible. It testifies to need of significant improvement of knowledge and a comprehension of this pathology both for society, and among health workers.

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