Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?
Exp Clin Endocrinol Diabetes
; 119(10): 610-2, 2011 Nov.
Article
em En
| MEDLINE
| ID: mdl-21553366
ABSTRACT
Shwachman-Diamond syndrome is a rare clinical condition consisting of exocrine pancreatic dysfunction, various degree of pancytopenia, and metaphyseal dysplasia. The majority of Shwachman-Diamond syndrome cases result from mutations in the Shwachman-Bodian-Diamond Syndrome gene. To date, type 1 diabetes mellitus has only been reported in 4 independent cases presenting with Shwachman-Diamond syndrome, 3 of them with molecular confirmation of the diagnosis. We describe 2 unrelated patients with clinical and molecular features typical of Shwachman-Diamond syndrome and type 1 diabetes mellitus. In addition, we report the occurrence rate of type 1 diabetes mellitus in the Italian registry for Shwachman-Diamond syndrome, which is low (3.23%) but increased at least 30-fold over the type 1 diabetes mellitus occurrence rate in the general population. No evidence of a direct correlation between Shwachman-Diamond syndrome and type 1 diabetes mellitus have been reported, therefore the presence of both diseases in the same patient might be a chance association, however we suggest that the defects in immune regulation of Shwachman-Diamond syndrome might play a role in the development of type 1 diabetes mellitus.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Pancreática Exócrina
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Doenças da Medula Óssea
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Diabetes Mellitus Tipo 1
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Lipomatose
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article