Affiliation:
1. Kazan State Medical University
2. Children’s Republican Clinical Hospital
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.
Publisher
The National Academy of Pediatric Science and Innovation
Subject
Pediatrics, Perinatology and Child Health