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迟发性庞贝病诊断历程与管理的专家意见:一位神经科医生的观点

Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.

作者信息

Erdem Ozdamar Sevim, Koc Ayse Filiz, Durmus Tekce Hacer, Kotan Dilcan, Ekmekci Ahmet Hakan, Sengun Ihsan Sukru, Yuceyar Ayse Nur, Uluc Kayihan

机构信息

Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.

Department of Neurology, Cukurova University Faculty of Medicine, Adana, Türkiye.

出版信息

Front Neurol. 2023 May 17;14:1095134. doi: 10.3389/fneur.2023.1095134. eCollection 2023.

Abstract

This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the differential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns.

摘要

由一组神经学专家达成的这份共识声明旨在提供一份实用且可实施的指导文件,以协助临床医生在晚发型庞贝病(LOPD)的诊断、治疗和监测方面实现最佳临床实践。参与的专家认为,医生对LOPD的临床怀疑对于预防LOPD患者的诊断和治疗延迟至关重要。本文提出了一种诊断算法,以促进对出现无法解释的近端/轴向肌无力(有或无呼吸道症状)或伴有高肌酸激酶血症和/或运动不耐受的限制性呼吸功能不全的患者进行LOPD诊断,这些症状/体征作为红旗症状/体征,提高了对LOPD诊断的怀疑指数。诊断基于随后使用干血斑(DBS)检测,并且DBS检测可通过白细胞、成纤维细胞或肌纤维中的酸性α-葡萄糖苷酶(GAA)组织分析和/或基因突变分析来确认。因此,专家们认为,提高医生对具有高LOPD怀疑指数的潜在表现特征的认识对于在鉴别诊断中怀疑和考虑LOPD至关重要,同时强烈建议在及时诊断LOPD和实施最佳实践模式时使用结合DBS检测和确证试验的诊断算法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee6e/10229878/ec9913ab4cb3/fneur-14-1095134-g0001.jpg

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