부산대학교 도서관

Shwachman‐Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of neutropenia that may progress to bone marrow failure, skeletal abnormalities and exocrine pancreatic insufficiency. In fact, SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis. In contrast, endocrine abnormalities do not appear to be a major finding in SDS. We report a case of type 1 diabetes mellitus (DM) diagnosis in a woman with SDS. This case report highlights: (1) the importance of distinguishing between type 1 and atypical presentations of DM in SDS, as well as the possible aetiopathogenic relationship between SDS and type 1 DM; and (2) adds to the body of literature regarding SDS and type 1 DM. Copyright © 2021 John Wiley & Sons.