TY - JOUR T1 - Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? JF - Exp Clin Endocrinol Diabetes Y1 - 2011 A1 - Gana, S A1 - Sainati, L A1 - Frau, M R A1 - Monciotti, C A1 - Poli, F A1 - Cannioto, Z A1 - Comelli, M A1 - Danesino, C A1 - Minelli, A KW - Bone Marrow Diseases KW - CD4-CD8 Ratio KW - Diabetes Mellitus, Type 1 KW - Exocrine Pancreatic Insufficiency KW - Female KW - Heterozygote KW - Humans KW - Immune System KW - Infant KW - Italy KW - Lipomatosis KW - Male KW - Mutation KW - Prevalence KW - Proteins KW - Registries AB -

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.

VL - 119 IS - 10 U1 - http://www.ncbi.nlm.nih.gov/pubmed/21553366?dopt=Abstract ER -