vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v14i3.1381vsp-709Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL OBSERVATIONSСлучаи трихогепатоэнтерального синдрома (синдромной диареи), осложненного кроноподобным заболеваниемCases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s DiseaseРославцеваЕ. А.RoslavtsevaЕ. А.

кандидат медицинских наук, старший научный сотрудник отделения питания здорового и больного ребенка НИИ педиатрии Научного центра здоровья детей

roslavceva@nczd.ruБоровикТ. Э.BorovikТ. E.ЦимбаловаЕ. Г.TsimbalovaЕ. G.АнушенкоА. О.AnushenkoА. О.ПотаповА. С.PotapovА. S.ЛохматовМ. М.LokhmatovМ. М.ЧащинаИ. Л.ChashchinaI. L.БакрадзеМ. Д.BakradzeМ. D.Научный центр здоровья детей, Москва, Российская ФедерацияРоссияScientific Centre of Children Health, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Российская ФедерацияРоссияScientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian FederationRussian Federation201525082015143Вопросы современной педиатрии416421Copyright © Рославцева Е.А., Боровик Т.Э., Цимбалова Е.Г., Анушенко А.О., Потапов А.С., Лохматов М.М., Чащина И.Л., Бакрадзе М.Д., 20152015Рославцева Е.А., Боровик Т.Э., Цимбалова Е.Г., Анушенко А.О., Потапов А.С., Лохматов М.М., Чащина И.Л., Бакрадзе М.Д.Roslavtseva Е.А., Borovik Т.E., Tsimbalova Е.G., Anushenko А.О., Potapov А.S., Lokhmatov М.М., Chashchina I.L., Bakradze М.D.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/709

Трихогепатоэнтеральный синдром (син. синдромная, фенотипическая диарея, SD/THES) — редкое врожденное заболевание с преимущественным поражением кишечника. Причиной его развития являются мутации генов SKIV2L или TTC37. Характеризуется внутриутробной гипотрофией, тяжелой хронической диареей с дебютом в младенческом возрасте, характерными чертами лица и особенностями роста волос, иммунными нарушениями. Приводятся данные о двух пациентах с трихогепатоэнтеральным синдромом, осложненным кроноподобным заболеванием. Случаи трихогепатоэнтерального синдрома и его осложнения в виде кроноподобного заболевания описываются в российской медицинской литературе впервые. 

Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES) is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

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