Family case of Schwachman-Diamond syndrome

Family case of Schwachman-Diamond syndrome

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 nutrit...

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Veröffentlicht in:Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii 2016-06, Vol.13 (2), p.137-138
Hauptverfasser: Ipatova, M. G., Finogenova, N. A., Mukhina, Yu. G., Shumilov, P. V., Chubarova, A. I.
Format: Artikel
Sprache:eng ; rus
Schlagworte:
bone abnormalities
children
diagnosis
exocrine insufficiency
hematological disorders
pancreas
schwachman-diamond syndrome
treatment
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Beschreibung
Zusammenfassung: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.
ISSN:1727-5776
2500-3089
DOI:10.15690/pf.v13i2.1554