medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/2079-701X-2014-12-106-110medsovet-696Research ArticleАТЕРОСКЛЕРОЗ И МЕТАБОЛИЧЕСКИЙ СИНДРОМATHEROSCLEROSIS AND THE METABOLIC SYNDROMEКонсилиум у 9-летнего мальчика с уровнем холестерина 20 ммоль/л: от постановки диагноза к эффективному лечениюCase conference concerning 9-year-old boy having 20 mmol/lcholesterol: from diagnosis to effective treatmentСусековА. В.SusekovAVnoemail@neicon.ruЛугиноваЗ. Г.LuginovaZGnoemail@neicon.ruМешковА. Н.MeshkovANnoemail@neicon.ruСоловьеваЕ. Ю.SolovyovaEYnoemail@neicon.ruБалахоноваТ. В.BalakhonovaTVnoemail@neicon.ruСаидоваМ. А.SaidovaMAnoemail@neicon.ruКоткинаТ. И.KotkinaTInoemail@neicon.ruЩербаковаМ. Ю.ScherbakovaMYnoemail@neicon.ruДавыдкинВ. В.DavydkinVVnoemail@neicon.ruДубовенкоМ. А.DubovenkoMAnoemail@neicon.ruПостновА. Ю.PostnovAYnoemail@neicon.ruХасановаЗ. Б.KhasanovaZBnoemail@neicon.ruКоноваловГ. А.KonovalovGAnoemail@neicon.ruКухарчукВ. В.KukharchukVVnoemail@neicon.ruИнститут клинической кардиологии им. А.Л. МясниковаРоссияClinical lipidology laboratory, atherosclerosis department of the Institute of Clinical Cardiology named after A.L. MyasnikovRussian FederationГосударственный научно-исследовательский центр профилактической медицины Минздрава РоссииРоссияNational Research Center for Preventive Medicine, Ministry of Health of the Russian FderationRussian FederationЛаборатория клинической липидологии отдела атеросклероза Института клинической кардиологии им. А.Л. МясниковаРоссияClinical lipidology laboratory, atherosclerosis department of the Institute of Clinical Cardiology named after A.L. MyasnikovRussian FederationЛаборатория клинической липидологии отдела атеросклероза Института клинической кардиологии им. А.Л. МясниковаРоссияClinical lipidology laboratory, atherosclerosis department of the Institute of Clinical Cardiology named after A.L. MyasnikovRussian FederationНаучно-исследовательский институт питания РАМНРоссияScientific Research Institute of Nutrition RAMSRussian FederationМосковский научно-исследовательский институт педиатрии и детской хирургии Минздрава РоссииРоссияMoscow Institute of Pediatrics and Pediatric Surgery, Ministry of Health of the Russian FederationRussian FederationМосковский научно-исследовательский институт педиатрии и детской хирургии Минздрава РоссииРоссияMoscow Institute of Pediatrics and Pediatric Surgery, Ministry of Health of the Russian FederationRussian FederationРоссийский кардиологический научно-производственный комплекс Минздрава России, МоскваРоссияthe Russian Cardiology Research and Production Complex, Ministry of Health of the Russian Federation, MoscowRussian FederationКлиника МедСиРоссияMedsi clinicRussian Federation201430122014012106110Copyright © Сусеков А.В., Лугинова З.Г., Мешков А.Н., Соловьева Е.Ю., Балахонова Т.В., Саидова М.А., Коткина Т.И., Щербакова М.Ю., Давыдкин В.В., Дубовенко М.А., Постнов А.Ю., Хасанова З.Б., Коновалов Г.А., Кухарчук В.В., 20142014Сусеков А.В., Лугинова З.Г., Мешков А.Н., Соловьева Е.Ю., Балахонова Т.В., Саидова М.А., Коткина Т.И., Щербакова М.Ю., Давыдкин В.В., Дубовенко М.А., Постнов А.Ю., Хасанова З.Б., Коновалов Г.А., Кухарчук В.В.Susekov A., Luginova Z., Meshkov A., Solovyova E., Balakhonova T., Saidova M., Kotkina T., Scherbakova M., Davydkin V., Dubovenko M., Postnov A., Хасанова З.Б., Коновалов Г.А., Kukharchuk V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/696

Семейная гиперхолестеринемия (СГХ) - самая частая и самая тяжелая форма моногенных дислипидемий с ранним и быстро прогрессирующим развитием атеросклероза и его осложнений [1-4, 12, 14]. Без лечения больные с СГХ имеют такой же тяжелый прогноз, как пациенты со СПИДом. Для этого генетического заболевания впервые был описан молекулярный дефект - отсутствие или дисфункция ЛНП рецепторов (ЛНП-Р) печени, основного пути катаболизма холестерина у человека [2, 3, 12, 13]. В настоящей работе представлен разбор клинического случая этого заболевания у 9-летнего мальчика.

Familial hypercholesterolemia (FHC) is the most common and most severe form of monogenic dyslipidemia with early and rapidly progressing atherosclerosis and its complications [1--4, 12, 14]. Without treatment, the prognosis for patients with FHC is as heavy as for AIDS patients. For the first time the molecular defect - absence or dysfunction of the LDL receptor (LDL-R), the main route for cholesterol catabolism in humans [2, 3, 12, 13] - was described with regard to this genetic disease. The article analyzes a clinical case of the disease in a 9-year-old boy.

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