肌营养不良症 2 型患者的预期寿命和死亡原因。

IF 3.2 4区 医学 Q2 CLINICAL NEUROLOGY Journal of neuromuscular diseases Pub Date : 2024-08-03 DOI:10.3233/JND-240089
Manon J Damen, Otto G Muilwijk, Tom B G Olde Dubbelink, Baziel G M van Engelen, Nicol C Voermans, Alide A Tieleman
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引用次数: 0

摘要

背景:肌营养不良症 2 型(DM2)是一种显性遗传的多系统疾病,由 CNBP 基因内含子 1 中的 CCTG 重复扩增引起。尽管在过去二十年中,全球已有超过 1500 名 DM2 患者被确诊,但我们对 DM2 患者预期寿命缩短的临床印象此前尚未进行过调查:这项观察性研究的目的是确定经基因证实的 DM2 患者的预期寿命和死亡原因:我们在荷兰神经肌肉数据库中找到了 2000 年至 2023 年间所有 DM2 死亡患者的数据。我们确定了患者的年龄、死亡原因和生前的临床特征。通过使用荷兰电子统计数据库(CBS StatLine)中带有预后群组预期寿命(CLE)和时期预期寿命(PLE)数据的生命表,将 DM2 患者的死亡年龄与普通人群进行了比较:在荷兰 DM2 队列(n = 125)中发现了 26 名死亡患者。与性别和年龄匹配的荷兰CLE(78.1岁)和PLE(82.1岁)相比,DM2的中位死亡年龄(70.9岁)明显偏低。主要死因是心脏病(31%)和肺炎(27%)。7名患者(27%)死亡时患有恶性肿瘤:这些结果为了解 DM2 的表型提供了新的视角。DM2患者的预期寿命缩短,可能有多种原因,包括心脏病、肺炎和恶性肿瘤的风险增加。预期寿命明显缩短对临床实践具有重要意义,可为包括临终关怀在内的晚期护理计划提供依据,以优化 DM2 患者及其家人的生活质量。应在更大的群体中开展研究,以证实这些发现,并进一步确定 DM2 的自然病程。
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Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2.

Background: Myotonic Dystrophy type 2 (DM2) is a dominantly inherited multisystem disease caused by a CCTG repeat expansion in intron 1 of the CNBP gene. Although in the last two decades over 1500 patients with DM2 have been diagnosed worldwide, our clinical impression of a reduced life expectancy in DM2 has not been investigated previously.

Objective: The aim of this observational study was to determine the life expectancy and the causes of death in patients with genetically confirmed DM2.

Methods: We identified the data of all deceased patients with DM2 in the Dutch neuromuscular database between 2000 and 2023. Ages and causes of death and the patients' clinical features during lifetime were determined. Age of death in DM2 was compared to the general population by using life tables with prognostic cohort life expectancy (CLE) and period life expectancy (PLE) data of the Dutch electronic database of statistics (CBS StatLine).

Results: Twenty-six deceased patients were identified in the Dutch DM2 cohort (n = 125). Median age of death in DM2 (70.9 years) was significantly lower compared to sex- and age-matched CLE (78.1 years) and PLE (82.1 years) in the Netherlands. Main causes of death were cardiac diseases (31%) and pneumonia (27%). Seven patients (27%) had a malignancy at the time of death.

Conclusion: These results provide new insights into the phenotype of DM2. Life expectancy in patients with DM2 is reduced, possibly attributable to multiple causes including increased risk of cardiac disease, pneumonia, and malignancies. The occurrence of a significantly reduced life expectancy has implications for clinical practice and may form a basis for advanced care planning, including end-of-life care, to optimize quality of life for patients with DM2 and their family. Research in larger cohorts should be done to confirm these findings and to ascertain more about the natural course in DM2.

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来源期刊
Journal of neuromuscular diseases
Journal of neuromuscular diseases Medicine-Neurology (clinical)
CiteScore
5.10
自引率
6.10%
发文量
102
期刊介绍: The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.
期刊最新文献
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6. An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies. Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021. Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis
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