Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
Lusine V NavasardyanIngrid FurlanStephanie BrandtAnsgar SchulzMartin WabitschChristian DenzerPublished in: Italian journal of pediatrics (2023)
Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.