Abstract
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.
Highlights
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
Summary
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. Ключевые слова: дети, синдром Швахмана–Даймонда, экзокринная недостаточность поджелудочной железы, гематологические нарушения. Синдром Швахмана–Даймонда (Shwachman– Bodian–Diamond Syndrome, SBDS, Shwachman–Diamond Syndrome, SDS) – редкое заболевание, наследуемое по аутосомно-рецессивному типу, характеризующееся внешнесекреторной недостаточностью поджелудочной железы, изменениями скелета и недостаточностью костного мозга с повышенным риском развития миелодисплазии и острого миелобластного лейкоза [1]. Что при синдроме Швахмана–Даймонда в поджелудочной железе происходит жировая замена ацинарных клеток, что приводит к экзокринной недостаточности.
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