title: Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?
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.
authors.affiliation: Medical Genetics, University of Pavia, Pavia, Italy. simonegana@yahoo.it
authors.forename: S
authors.initials: S
authors.lastname: Gana
authors.forename: L
authors.initials: L
authors.lastname: Sainati
authors.forename: M R
authors.initials: MR
authors.lastname: Frau
authors.forename: C
authors.initials: C
authors.lastname: Monciotti
authors.forename: F
authors.initials: F
authors.lastname: Poli
authors.forename: Z
authors.initials: Z
authors.lastname: Cannioto
authors.forename: M
authors.initials: M
authors.lastname: Comelli
authors.forename: C
authors.initials: C
authors.lastname: Danesino
authors.forename: A
authors.initials: A
authors.lastname: Minelli
mesh_terms: D001855:Bone Marrow Diseases / Q000150:complications* / Q000235:genetics / Q000276:immunology; D016516:CD4-CD8 Ratio; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000209:etiology; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications* / Q000235:genetics / Q000276:immunology; D005260:Female; D006579:Heterozygote; D006801:Humans; D007107:Immune System / Q000503:physiopathology; D007223:Infant; D007558:Italy / Q000453:epidemiology; D008068:Lipomatosis / Q000150:complications* / Q000235:genetics / Q000276:immunology; D008297:Male; D009154:Mutation; D015995:Prevalence; D011506:Proteins / Q000235:genetics; D012042:Registries; D000081003:Shwachman-Diamond Syndrome
chemical_list: D011506:Proteins; C470521:SBDS protein, human