Shwachman-diamond syndrome: how not to miss a serious illness

Abstract

Shwachman-Diamond syndrome is a rare disease inherited by autosomal recessive type, characterized by exocrine pancreatic insufficiency, bone abnormalities, growth retardation, bone marrow insufficiency with an increased risk of developing myelodysplastic syndrome and acute myeloblastic leukemia. The clinical manifestation of the disease is observed at the neonatal age. Pathology requires lifelong enzyme replacement therapy. The article contains a retrospective analysis of four case histories of children with Shwachman-Diamond syndrome. These clinical cases illustrate the importance of timely diagnosis and treatment of the disease. Early diagnosis and prescription of optimal enzyme replacement therapy contributes to adequate physical development of the child, improving his quality of life and prognosis.