DOI 10.1007/s40618-024-02495-z
SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.
Аннотация
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 patient, with an emphasis on exploring new potential drug therapies. A holistic care model that addresses the medical, psychological, and social challenges faced by patients with WFS and their families is strongly endorsed. The opinion underscores the importance of educating healthcare professionals about WFS to enhance early diagnosis and intervention, aiming to improve outcomes for patients through practical and evidence-based clinical strategies.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.