[Shwachman-Diamond syndrome: clinical manifestations and molecular genetics]

The Shwachman-Diamond syndrome is a rare, autosomal recessive primary immunodeficiency disorder characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis, short stature, bone marrow dysfunction and recurrent infections. The authors summarize current knowledge on molecular pathomechanisms, diagnostic criteria, therapy, and clinical manifestations of the syndrome. They present the first Hungarian patient with Shwachman-Diamond syndrome, in whom mutation analysis was performed. The patient had neutropenia, exocrine pancreatic failure, severe growth retardation, and recurrent skin and respiratory tract infections. Two previously undescribed mutations in the Shwachman-Diamond syndrome gene (c.362A > C, p.N121T and c.523C > T, p.R175W) were found. Recently, the mother became pregnant again and requested prenatal diagnosis, which revealed a carrier status of the c.523C > T, (p.R175W) mutation only, so the mother decided to complete the pregnancy.