SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.

ABSTRACT: Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) convened an expert panel of professional healthcare practitioners to provide up-to-date knowledge about the pathophysiology, clinical presentation and treatment of WFS, and recommendations for the earlydetection and optimal disease management. The consensus recommends the revision of diagnostic protocols to include genetic testing and comprehensive multidisciplinary evaluations to ensure accurate diagnosis of WFS, advocates for personalized management plans tailored to the unique needs of each patien

SUBMITTER: Frontino G 

PROVIDER: S-EPMC11876246 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature