nogrЭкспериментальная и клиническая гастроэнтерологияExperimental and Clinical Gastroenterology1682-8658«Global Media Technologies»10.31146/1682-8658-ecg-220-12-183-188nogr-2707Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL CASESИнфантильный системный гиалиноз с поражением ЖКТ проявившийся синдромом мальабсорбцииInfantile systemic hyalinosis with lesions of the gastrointestinal tract manifested by malabsorption syndromehttps://orcid.org/0000-0001-5635-6100ТертычныйА. С.TertychnyyA. S.noemail@neicon.ruАлиеваЭ. И.AlievaE. I.el-alieva@yandex.ruhttps://orcid.org/0000-0002-8136-0117ПачуашвилиН. В.PachuashviliN. V.noemail@neicon.ruhttps://orcid.org/0000-0002-1113-4616ГорячеваО. А.GoryachevaO. A.noemail@neicon.ruhttps://orcid.org/0000-0001-6966-9309ЦветковП. М.TsvetkovP. M.noemail@neicon.ruhttps://orcid.org/0000-0002-3109-8114КвирквелияМ. А.KvirkveliaM. A.noemail@neicon.ruhttps://orcid.org/0000-0002-4391-9776МареничН. С.MarenichN. S.noemail@neicon.ruФедеральное государственное автономное образовательное учреждение высшего образования «Первый Московский государственный медицинский университет имени И. М. Сеченова» Министерства здравоохранения Российской Федерации (Сеченовский Университет)РоссияI. M. Sechenov First Moscow State Medical University (Sechenov University)Russian FederationФедеральное Государственное Бюджетное Учреждение “Федеральный научно-клинический центр детей и подростков федерального медико-биологического агентства»РоссияFederal Scientific and Clinical Center for Children and Adolescents of the Federal Medical and Biological Agency of RussiaRussian FederationГосударственное бюджетное учреждение здравоохранения города Москвы «Морозовская детская городская клиническая больница Департамента здравоохранения города Москвы»РоссияMorozovskaya City Children’s Clinical Hospital, Moscow Health DepartmentRussian Federation202318122023012183188Copyright © Тертычный А.С., Алиева Э.И., Пачуашвили Н.В., Горячева О.А., Цветков П.М., Квирквелия М.А., Маренич Н.С., 20232023Тертычный А.С., Алиева Э.И., Пачуашвили Н.В., Горячева О.А., Цветков П.М., Квирквелия М.А., Маренич Н.С.Tertychnyy A.S., Alieva E.I., Pachuashvili N.V., Goryacheva O.A., Tsvetkov P.M., Kvirkvelia M.A., Marenich N.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.nogr.org/jour/article/view/2707

Инфантильный системный гиалиноз (ИСГ) является редким аутосомно-рецессивным заболеванием соединительной ткани, вызванным мутациями в гене ANTXR2. Болезнь характеризуется прогрессирующим отложением аморфных гиалиновых масс в различных органах и тканях. К основным отличительным проявлениям ИСГ относят утолщение кожи, эритему или гиперпигментацию костных выступов, поражение внутренних органов, стойкую диарею, частые тяжелые инфекции и задержку развития. В данной статье представлен случай диагностики ИСГ у пациентки в возрасте 2 лет, ключевой особенностью приведенного нами случая является постановка диагноза на основании оценки результатов эндоскопического и патолого-анатомического исследований. Цель данной работы в повышении осведомленности и настороженности врачей разных специальностей в столь редком заболевании.

Infantile systemic hyalinosis (ISH) is a rare genetic disease, which is associated with ANTXR2 gene defect. The disease is characterized by progressive deposition of amorphous hyaline masses in various organs and tissues. The main distinguishing features of ISH include thickening of the skin, erythema or hyperpigmentation of bone prominences, damage to internal organs, persistent diarrhea, frequent severe infections and developmental delay. This article presents a case of ISH diagnosis in a patient aged 2 years, the key feature of which is the establishment of a diagnosis based on the evaluation of the results of endoscopic and morphological studies. The purpose of our work is to increase awareness and alertness of doctors of different specialties in such a rare disease.

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