vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v13i6.1207vsp-107Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL OBSERVATIONSБОЛЕЗНЬ ФАРБЕРА — ХАРАКТЕРИСТИКА ЗАБОЛЕВАНИЯ С ОПИСАНИЕМ КЛИНИЧЕСКИХ СЛУЧАЕВFARBER DISEASE — DISEASE DESCRIPTION WITH CASE REPORTSЧиковаИ. А.ChikovaI. A.neonatepearl@yandex.ruБучинскаяН. В.BuchinskayaN. V.neonatepearl@yandex.ruКостикМ. М.KostikМ. М.

Костик Михаил Михайлович, кандидат медицинских наук, доцент кафедры госпитальной педиатрии СПбГПМУ

kost-mikhail@yandex.ruАвраменкоВ. В.AvramenkoV. V.neonatepearl@yandex.ruКрасногорскаяО. Л.KrasnogorskayaO. L.neonatepearl@yandex.ruНасыровР. А.NasirovR. A.neonatepearl@yandex.ruЛевадеТ.LevadeT.neonatepearl@yandex.ruЧасныкВ. Г.ChasnykV. G.neonatepearl@yandex.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian FederationЛаборатория биохимии метаболизма института биологии Университетской Клиники, Пурпан, ТулузаФранцияLaboratoire de Biochimie Metabolique, Institut Federatif de Biologie, CHU Purpan, ToulouseFrance201410122014136Вопросы современной педиатрии7884Copyright © Чикова И.А., Бучинская Н.В., Костик М.М., Авраменко В.В., Красногорская О.Л., Насыров Р.А., Леваде Т., Часнык В.Г., 20142014Чикова И.А., Бучинская Н.В., Костик М.М., Авраменко В.В., Красногорская О.Л., Насыров Р.А., Леваде Т., Часнык В.Г.Chikova I.A., Buchinskaya N.V., Kostik М.М., Avramenko V.V., Krasnogorskaya O.L., Nasirov R.A., Levade T., Chasnyk V.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/107

Представлены клинические проявления болезни Фарбера (липогранулематоз, OMIM 228000), подходы к диагностике, дифференциальной диагностике заболевания. Болезнь Фарбера имеет много «масок» различных заболеваний, таких как ювенильный артрит, хроническая крапивница, папилломатоз гортани и др. Наиболее эффективным методом лечения следует считать трансплантацию костного мозга, которая способствует снижению степени инвалидизации и улучшает качество жизни ребенка. Разработан препарат для ферментозаместительной терапии болезни Фарбера, находящийся на стадии клинических испытаний. Также в статье подробно описаны два собственных клинических наблюдения болезни Фарбера различных типов. Один случай — история болезни мальчика в возрасте 10 лет со II–III типом заболевания, второй — случай смерти от I (классического) типа болезни Фарбера в возрасте 4 лет 3 мес.

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