A Case of Shwachman-Diamond Syndrome / 소아과
Korean Journal of Pediatrics
;
: 900-903, 2004.
Artículo
en Coreano
| 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.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Insuficiencia Pancreática Exocrina
/
Médula Ósea
/
Enfermedades de la Médula Ósea
/
Síndromes Mielodisplásicos
/
Leucemia
/
Insuficiencia de Crecimiento
/
Neutropenia
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Pediatrics
Año:
2004
Tipo del documento:
Artículo
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