A Case of Shwachman-Diamond Syndrome / 소아과
Korean Journal of Pediatrics
;
: 900-903, 2004.
Article
Dans Coréen
| WPRIM
| ID: wpr-148788
ABSTRACT
Shwachman-Diamond syndrome(SD syndrome) is a rare genetic disorder chracterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Exocrine pancreatic insufficiency and neutropenia are the main components of the syndrome. A hallmark of SD syndrome is varying severity of pancreatic dysfunction due to acinar maldevelopment. The hematologic abnormalities associated with SD syndrome include varying cytopenias, marrow aplasia, myelodysplasia and a high risk of development of leukemia. We report a case of SD syndrome in a 10-year-old boy who presented with failure to thrive and myelodysplastic syndrome.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Insuffisance pancréatique exocrine
/
Moelle osseuse
/
Maladies de la moelle osseuse
/
Syndromes myélodysplasiques
/
Leucémies
/
Retard de croissance staturo-pondérale
/
Neutropénie
Limites du sujet:
Enfant
/
Humains
/
Mâle
langue:
Coréen
Texte intégral:
Korean Journal of Pediatrics
Année:
2004
Type:
Article
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