Краткие рекомендации по ведению больных с синдромом Швахмана-Даймонда

Shwachman-Diamond syndrome (SDS) is a disease with autosomal recessive inheritance type, characterized by exocrine pancreatic insufficiency, hematologic abnormalities, growth retardation and bone abnormalities. The disease is caused by SBDS gene mutations. This syndrome is rarely diagnosed in first months of life. Early diagnosis and prompt treatment improve quality of life and prognosis of these patients. The article describes recommendations for early diagnosis and tactics of treatment of children with SDS.