perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2021-66-5-223-226perinatology-1509Research ArticleК XVIII РОССИЙСКОМУ КОНГРЕССУ «ПЕДИАТРИЯ И ДЕТСКАЯ ХИРУРГИЯ В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ». КЛИНИЧЕСКИЕ СЛУЧАИСиндром Швахмана–ДаймондаShwachman–Diamond Syndromehttps://orcid.org/0000-0003-0501-405XСабироваД. Р.SabirovaD. R.

Сабирова Дина Рашидовна – к.м.н., доц. кафедры госпитальной педиатрии

420012 Казань, ул. Бутлерова, д. 49

Kazan

dinasabirova@mail.ruhttps://orcid.org/0000-0002-7180-9953ШакироваА. Р.ShakirovaA. R.

Шакурова Наиля Вагизовна – ординатор кафедры госпитальной педиатрии

420012 Казань, ул. Бутлерова, д. 49

Kazan

https://orcid.org/0000-0001-6694-1725РамазановаИ. И.RamazanovaI. I.

Рамазанова Ильсина Ильсуровна – врач-педиатр педиатрического отделения

420138 Казань, Оренбургский тракт, д. 138

Kazan

https://orcid.org/0000-0002-7180-9953ШакуроваН. В.ShakurovaN. V.

Шакурова Наиля Вагизовна – ординатор кафедры госпитальной педиатрии

420012 Казань, ул. Бутлерова, д. 49

Kazan

ФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииРоссияKazan State Medical UniversityRussian FederationГАУЗ «Детская республиканская клиническая больница Минздрава Республики Татарстан»РоссияChildren’s Republican Clinical HospitalRussian Federation202109122021665223226Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20212021Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1509

В статье описан клинический случай редко встречающегося синдрома Швахмана–Даймонда. Рассмотрены особенности клинической картины заболевания, лабораторных методов исследования. Мультидисциплинарный подход с целью ранней диагностики, своевременного начала комплексного лечения, включающего лечебное питание, назначение ферментных препаратов и гранулоцитарного колониестимулирующего фактора, дает возможность улучшить качество жизни и прогноз у таких пациентов.

This article describes a clinical case of a rare Schwachman–Diamond syndrome. It covers the features of the clinical picture of the disease and the laboratory examinations. A multidisciplinary approach for the purpose of early diagnosis, timely initiation of complex treatment, including nutritional therapy, prescription of enzyme preparations and granulocyte colony-stimulating factor, makes it possible to improve the quality of life and prognosis in such patients.

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