SID/SIEDP 专家共识:优化沃尔夫拉姆综合征早期检测和管理的临床策略。

IF 5.4 2区 医学 Q1 Medicine Journal of Endocrinological Investigation Pub Date : 2024-11-11 DOI:10.1007/s40618-024-02495-z
Giulio Frontino, Maurizio Delvecchio, Sabrina Prudente, Valeria Daniela Sordi, Piero Barboni, Alessandra Di Giamberardino, Alessandra Rutigliano, Silvia Pellegrini, Amelia Caretto, Maria Lucia Cascavilla, Riccardo Bonfanti, Giuseppe D'Annunzio, Fortunato Lombardo, Lorenzo Piemonti
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引用次数: 0

摘要

沃尔夫拉姆综合征(WFS)是一种罕见的多系统变性疾病,可导致过早死亡。临床和基因的异质性使得沃尔夫拉姆综合征的诊断和治疗具有挑战性。意大利糖尿病学会(SID)和意大利儿科内分泌与糖尿病学会(SIEDP)召集了一个由专业医疗从业人员组成的专家小组,以提供有关沃尔夫拉姆综合征的病理生理学、临床表现和治疗的最新知识,以及早期发现和优化疾病管理的建议。共识建议修订诊断方案,纳入基因检测和全面的多学科评估,以确保准确诊断 WFS,提倡根据每位患者的独特需求制定个性化的管理计划,重点是探索新的潜在药物疗法。该意见强烈支持采用整体护理模式,以应对 WFS 患者及其家庭所面临的医疗、心理和社会挑战。该意见强调了对医护人员进行有关 WFS 的教育以加强早期诊断和干预的重要性,旨在通过实用的循证临床策略改善患者的治疗效果。
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SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.

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.

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来源期刊
Journal of Endocrinological Investigation
Journal of Endocrinological Investigation ENDOCRINOLOGY & METABOLISM-
CiteScore
8.10
自引率
7.40%
发文量
242
期刊介绍: The Journal of Endocrinological Investigation is a well-established, e-only endocrine journal founded 36 years ago in 1978. It is the official journal of the Italian Society of Endocrinology (SIE), established in 1964. Other Italian societies in the endocrinology and metabolism field are affiliated to the journal: Italian Society of Andrology and Sexual Medicine, Italian Society of Obesity, Italian Society of Pediatric Endocrinology and Diabetology, Clinical Endocrinologists’ Association, Thyroid Association, Endocrine Surgical Units Association, Italian Society of Pharmacology.
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