自法国生物疗法问世以来的转甲状腺素蛋白（TTR）基因筛查：2018年至2023年的全国性回顾性调查
TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.
作者信息
Ait Tayeb Abd El Kader, Chazelas Pauline, Poinsignon Vianney, Adams David, Berthot Caroline, Cauquil Cécile, Dhaenens Claire-Marie, Francou Bruno, Jedraszak Guillaume, Labeyrie Céline, Redondo Clara Laffitte, Lia Anne-Sophie, Lopez Maureen, Proust Alexis, Sturtz Franck, Tosca Lucie, Verstuyft Céline, Echaniz-Laguna Andoni, Bouligand Jérôme
机构信息
Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France.
出版信息
Eur J Neurol. 2025 Apr;32(4):e70104. doi: 10.1111/ene.70104.
BACKGROUND
Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disorder caused by mutations in the TTR gene. Associated with various clinical phenotypes like polyneuropathy and cardiomyopathy, ATTRv has historically had poor outcomes. Recent advances in biotherapies have significantly improved these outcomes. This study aimed to assess the evolution in genetic TTR variant screening since the advent of biotherapies in France in 2018.
METHODS
This nationwide retrospective study analyzed data and genetic results from patients who underwent TTR gene sequencing from 2018 to 2023.
RESULTS
16,640 patients were tested during the period studied. There was a 108% increase in the number of TTR gene sequencing performed annually between 2018 and 2023. Positive rates remained stable despite increased testing (7.09% over time). During this 6-year period, 1,179 patients were diagnosed with a pathogenic variant of TTR.
CONCLUSIONS
The study shows a substantial rise in TTR genetic testing in France, likely linked to the deployment of biotherapies. These findings underscore the necessity of integrating TTR gene sequencing into standard diagnostic procedures, especially given the effectiveness of treatments and the stability of positive rates.
背景
遗传性转甲状腺素蛋白淀粉样变性病（ATTRv）是一种由转甲状腺素蛋白（TTR）基因突变引起的罕见遗传病。ATTRv与多种临床表型相关，如多发性神经病和心肌病，其历史预后较差。生物疗法的最新进展显著改善了这些预后。本研究旨在评估自2018年法国引入生物疗法以来，遗传性TTR变异筛查的演变情况。
方法
这项全国性回顾性研究分析了2018年至2023年期间接受TTR基因测序的患者的数据和基因检测结果。
结果
在研究期间共检测了16640例患者。2018年至2023年期间，每年进行的TTR基因测序数量增加了108%。尽管检测数量增加，但阳性率保持稳定（随时间推移为7.09%）。在这6年期间，有1179例患者被诊断出携带TTR致病变异。
结论
该研究表明法国的TTR基因检测大幅增加，这可能与生物疗法的应用有关。这些发现强调了将TTR基因测序纳入标准诊断程序的必要性，特别是考虑到治疗的有效性和阳性率的稳定性。
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