Family case of Schwachman-Diamond syndrome
https://doi.org/10.15690/pf.v13i2.1554
Abstract
Schwachman-Diamond syndrome is a disease characterized by exocrine pancreatic insufficiency, hematological disorders, growth retardation and bone abnormalities. The disease is caused by mutations in the SBDS gene. Early diagnosis and timely start of comprehensive treatment, including clinical nutrition, appointment of enzyme preparations and granulocyte colony stimulating factor, improve the quality of life and prognosis of these patients. The article describes the clinical observation of the Schwachman-Diamond syndrome’s family case.
About the Authors
M. G. Ipatova
Pirogov Russian National Research Medical University, Moscow, Russian Federation
N.F. Filatov Children’s Clinical Hospital, Moscow, Russian Federation
Russian Federation
Russian Federation
N. A. Finogenova
Rogachev Federal Research and Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
Russian Federation
Russian Federation
Yu. G. Mukhina
Pirogov Russian National Research Medical University, Moscow, Russian Federation
Russian Federation
Russian Federation
P. V. Shumilov
Pirogov Russian National Research Medical University, Moscow, Russian Federation
Russian Federation
Russian Federation
A. I. Chubarova
Pirogov Russian National Research Medical University, Moscow, Russian Federation
N.F. Filatov Children’s Clinical Hospital, Moscow, Russian Federation
Russian Federation
Russian Federation
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Review
For citations:
Ipatova M.G., Finogenova N.A., Mukhina Yu.G., Shumilov P.V., Chubarova A.I. Family case of Schwachman-Diamond syndrome. Pediatric pharmacology. 2016;13(2):137-138. (In Russ.) https://doi.org/10.15690/pf.v13i2.1554
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