A clinical case of Shwachman-Diamond syndrome
The article deals with modern data about Shwachman-Diamond syndrome, presents information about the incidence rate, types of inheritance, clinical specificities of disease. Shwachman-Diamond syndrome is a rare congenital disorder with an autosomal recessive type of inheritance, it is characterized by exocrine pancreatic insufficiency with bone marrow dysfunction, and also damage of the gastrointestinal tract, the immune system, the bone and cardiovascular systems. A clinical case of diagnosed Shwachman-Diamond syndrome in a 1.7-year-old girl with detected SBDS mutation is described.