A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease

Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac...

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Detalles Bibliográficos
Autores principales: Hagiwara, Shin-ichiro, Watanabe, Arata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227317/
https://www.ncbi.nlm.nih.gov/pubmed/25396035
http://dx.doi.org/10.4081/pr.2012.e30
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author Hagiwara, Shin-ichiro
Watanabe, Arata
author_facet Hagiwara, Shin-ichiro
Watanabe, Arata
author_sort Hagiwara, Shin-ichiro
collection PubMed
description Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation.
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spelling pubmed-42273172014-11-13 A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease Hagiwara, Shin-ichiro Watanabe, Arata Pediatr Rep Case Report Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation. PAGEPress Publications, Pavia, Italy 2012-09-26 /pmc/articles/PMC4227317/ /pubmed/25396035 http://dx.doi.org/10.4081/pr.2012.e30 Text en ©Copyright S. Hagiwara and A. Watanabe http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hagiwara, Shin-ichiro
Watanabe, Arata
A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease
title A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease
title_full A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease
title_fullStr A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease
title_full_unstemmed A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease
title_short A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease
title_sort case of shwachman-diamond syndrome distinguished from celiac disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227317/
https://www.ncbi.nlm.nih.gov/pubmed/25396035
http://dx.doi.org/10.4081/pr.2012.e30
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