Regional Coordinating Centre for Rare Diseases, University Hospital of Udine, Udine Italy.
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Nutr Metab Cardiovasc Dis. 2024 Nov;34(11):2440-2445. doi: 10.1016/j.numecd.2024.07.017. Epub 2024 Jul 30.
Inherited metabolic disorders (IMDs), previously considered as a paediatric sub-specialisation are more and more prevalent in adults, thanks to improved survival, and the expansion of diagnostic tools detecting attenuated-late onset forms in adulthood. Italy is one of the countries with the highest number of IMDs screened by dry blood spots in neonates, allowing them to receive early treatments and to reach adult age. Despite this, awareness of IMDs is still low by the adult medical community, with difficulties in transition and transfer of patients to adult services and unmet patient needs. In 2022, a collaboration between the adult metabolic working group of the Italian Society for the Study of Inherited Metabolic Disorders and Neonatal Screening (SIMMESN) and the European Reference Network for Hereditary Metabolic Disorders (MetabERN) was established to face problems linked to IMDs in adulthood. "The Statement of Udine" was developed to guide further steps towards improvements in inherited metabolic medicine in adults, referencing the experience from the UK. The aim of this paper is to present "The Statement of Udine" explaining its background and its possible applications.
遗传性代谢疾病（IMD）曾被认为是儿科的一个分支，但由于生存能力的提高，以及诊断工具的扩展，能够检测到成人中较为轻微和迟发的形式，因此在成年人群中越来越常见。意大利是通过新生儿干血斑筛查 IMD 数量最多的国家之一，这使得他们能够接受早期治疗并达到成年期。尽管如此，成人医学界对 IMD 的认识仍然很低，患者在向成人医疗服务过渡和转移方面存在困难，患者的需求也未得到满足。2022 年，意大利遗传性代谢疾病研究学会和新生儿筛查成人代谢工作组与遗传性代谢疾病欧洲参考网络（MetabERN）之间建立了合作关系，以应对成人 IMD 相关问题。“乌迪内宣言”是为了借鉴英国的经验，指导进一步改善成人遗传性代谢医学而制定的。本文旨在介绍“乌迪内宣言”，解释其背景和可能的应用。
