Introducing a revised version of the Kumamoto scale as an easy-to-use clinical tool for monitoring multisystemic changes in hereditary transthyretin amyloidosis.

IF 3.5 2区 医学 Q2 GENETICS & HEREDITY
Jonas Wixner, Björn Pilebro, Tale N Wien, Per Eldhagen, Henning Mölgaard, Björn Hedström, Astrid J Terkelsen
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引用次数: 0

Abstract

Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare but life-threatening multisystemic disease. Multiple disease-modifying treatments are now available and standardised instruments for early detection and disease monitoring are essential. Still, validated and easy-to-use tools for clinical follow-up are scarce.

Methods: The Kumamoto scale was first described in 1997 as a method for systematically evaluating patients with ATTRv amyloidosis and has been used in clinical trials since. A panel of amyloidosis experts from Sweden, Denmark, and Norway discussed the strengths and limitations of the Kumamoto scale at the Nordic Amyloidosis Day at Arlanda in 2023, and it was decided to revise and improve the scale that has been used in routine clinical monitoring of patients in Sweden since 2020. Our aim is to introduce the revised version of the Kumamoto scale as a useful clinical monitoring tool.

Results: Minor adjustments were applied to make the scale more sensitive and precise. Bedside instruments for sensory examination were defined as well as the sensory and motor levels. Constipation was added as a sign of autonomic dysfunction. The subtotal and total scores remain unchanged.

Conclusions: We believe that the revised Kumamoto scale is a reliable and easy-to-use clinical tool for monitoring ATTRv amyloidosis.

引入熊本量表的修订版,作为一种易于使用的临床工具,用于监测遗传性甲状腺转蛋白淀粉样变的多系统变化。
背景:遗传性甲状腺转蛋白淀粉样变是一种罕见但危及生命的多系统疾病。现在有多种治疗疾病的方法,早期发现和疾病监测的标准化仪器是必不可少的。然而,经过验证且易于使用的临床随访工具仍然很少。方法:熊本量表于1997年首次被描述为一种系统评估ATTRv淀粉样变患者的方法,此后一直用于临床试验。来自瑞典、丹麦和挪威的淀粉样变性专家小组在2023年阿兰达举行的北欧淀粉样变性日上讨论了熊本量表的优势和局限性,并决定修改和改进自2020年以来在瑞典用于患者常规临床监测的量表。我们的目的是介绍熊本量表的修订版作为一个有用的临床监测工具。结果:经轻微调整后,量表更加灵敏、准确。定义了用于感觉检查的床边仪器以及感觉和运动水平。便秘被添加为自主神经功能障碍的标志。小计和总分保持不变。结论:我们认为修订后的熊本量表是一种可靠且易于使用的监测ATTRv淀粉样变的临床工具。
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来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
期刊介绍: Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
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