medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/2079-701X-2016-1-128-135medsovet-22Research ArticleТРУДНЫЙ ДИАГНОЗDIFFICULT DIAGNOSISЛизосомные болезни накопления липидов у детей. Современные способы диагностики и леченияLysosomal lipid storage diseases in children. Modern diagnostic and treatment methodsЗахароваИ. Н.ZakharovaI. N.noemail@neicon.ruГоряйноваА. Н.GoryaynovaА. N.noemail@neicon.ruМайковаИ. Д.MaikovaI. D.noemail@neicon.ruКороидН. В.KoroidN. V.noemail@neicon.ruКатасоноваЛ. П.KatasonovaL. P.noemail@neicon.ruЕлфимоваО. И.ElfimovaO. I.noemail@neicon.ruКузинаН. Е.KuzinaN. E.noemail@neicon.ruДиковаЕ. А.DikovaE. A.noemail@neicon.ruРоссийская медицинская академия последипломного образованияРоссияRussian Medical Academy of Postgraduate EducationRussian FederationДетская городская клиническая больница им. З.А. БашляевойРоссияChildren's Clinical Hospital named after Z.A. BashlyaevaRussian Federation20163012201611128135Copyright © Захарова И.Н., Горяйнова А.Н., Майкова И.Д., Короид Н.В., Катасонова Л.П., Елфимова О.И., Кузина Н.Е., Дикова Е.А., 20162016Захарова И.Н., Горяйнова А.Н., Майкова И.Д., Короид Н.В., Катасонова Л.П., Елфимова О.И., Кузина Н.Е., Дикова Е.А.Zakharova I.N., Goryaynova А.N., Maikova I.D., Koroid N.V., Katasonova L.P., Elfimova O.I., Kuzina N.E., Dikova E.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/22

Одной из причин гепатомегалии у детей являются редкие (орфанные) заболевания, связанные с врожденными нарушениями метаболизма. С 2008 г. последний день февраля объявлен Днем редких заболеваний. Как правило, мысль о наличии у ребенка врожденного нарушения метаболизма не внушает врачу-педиатру оптимизма из-за неблагоприятного прогноза и отсутствия эффективной терапии. Однако в настоящее время появляются препараты, способные улучшить качество жизни пациентов с орфанными заболеваниями. Основной задачей врача-педиатра является своевременная диагностика, позволяющая вовремя назначить заместительную энзимную (ферментную) терапию.

One of the causes of hepatomegaly in children are rare (orphan) diseases associated with congential metabolic disorders. Starting from 2008, the last day of February is Rare Disease Day. As a rule, knowing that the child has a congenital metabolism disorder does not inspire pediatrician's optimism because of poor prognosis and ineffective therapy. However today, new drugs are emerging that can improve the quality of life of patients with orphan diseases. The main target of the pediatrician is timely diagnosis which allows to prescribe replacement enzyme therapy.

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