Phenotypes and outcome of diffuse pulmonary non-amyloid light chain deposition disease

IF 4.7 2区医学 Q1 RESPIRATORY SYSTEM

Respiratory Research Pub Date : 2024-04-10 DOI:10.1186/s12931-024-02798-y

François Lestelle, Catherine Beigelman, David Rotzinger, Salim Si-Mohamed, Mouhamad Nasser, Lidwine Wemeau, Sandrine Hirschi, Grégoire Prevot, Antoine Roux, Vincent Bunel, Emmanuel Gomez, Laurent Sohier, Helene Morisse Pradier, Martine Reynaud Gaubert, Anne Gondouin, Romain Lazor, Jean-Charles Glerant, Françoise Thivolet Bejui, Magali Colombat, Vincent Cottin

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引用次数: 0

Abstract

Light chain deposition disease (LCDD) is a very rare entity. Clinical manifestations of LCDD vary according to the organs involved. Data on pulmonary LCDD are scarce and limited to small series or case reports. This study aimed to describe the characteristics and outcome of diffuse pulmonary non-amyloid LCDD localized to the lungs. A multicenter retrospective cohort study was conducted. Clinical characteristics were collected, and chest CTs were centrally reviewed. The diagnosis of pulmonary non-amyloid LCDD was confirmed by immunohistochemistry. Thirty-one cases were identified (68% female), with a median age at diagnosis of 50 years (IQR 20). Baseline FEV1/FVC was < 0.70 in 45% of patients. Mean (± SD) FEV1 and DLCO were 86% ± 26.2 and 52% ± 23.9, respectively. CT revealed peculiar patterns of thin-walled cysts (58%) and thin-walled cystic bronchiectases (27%). Increased serum kappa light chain was found in 87% of patients. Histological analysis showed kappa light chain deposits in all patients, except one with lambda chain deposits. Median annual FEV1 decline was 127 ml (IQR 178) and median DLCO decline was 4.3% (IQR 4.3). Sixteen patients received immunomodulatory treatment or chemotherapy; serum light chain levels decreased in 9 cases (75%), without significant improvement in FEV1 (p = 0.173). Overall, 48% of patients underwent bilateral lung transplantation. Transplant-free survival at 5 and 10 years were 70% and 30%, respectively. An annual FEV1 decline greater than 127 ml/year was associated with increased risk of death or transplantation (p = 0.005). Diffuse pulmonary LCDD is characterised by female predominance, a peculiar imaging pattern with bronchiectasis and/or cysts, progressive airway obstruction and severe DLCO impairment, and poor outcome. Lung transplantation is a treatment of choice.

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弥漫性肺非淀粉样轻链沉积症的表型和预后

轻链沉积病（LCDD）是一种非常罕见的疾病。LCDD 的临床表现因所涉及的器官而异。有关肺部LCDD的数据很少，且仅限于小型系列或病例报告。本研究旨在描述肺部弥漫性非淀粉样蛋白LCDD的特征和结局。研究采用多中心回顾性队列研究。研究收集了临床特征，并对胸部 CT 进行了集中审查。通过免疫组化确诊为肺部非淀粉样蛋白LCDD。共发现 31 例病例（68% 为女性），诊断时的中位年龄为 50 岁（IQR 20）。45%的患者基线FEV1/FVC小于0.70。平均（± SD）FEV1 和 DLCO 分别为 86% ± 26.2 和 52% ± 23.9。CT 显示薄壁囊肿（58%）和薄壁囊性支气管扩张（27%）的特殊形态。87%的患者血清卡帕轻链增高。组织学分析显示，除一名患者有λ链沉积外，所有患者均有卡帕轻链沉积。每年 FEV1 下降的中位数为 127 毫升（IQR 为 178），DLCO 下降的中位数为 4.3%（IQR 为 4.3）。16 例患者接受了免疫调节治疗或化疗；9 例（75%）患者的血清轻链水平有所下降，但 FEV1 没有明显改善（p = 0.173）。总体而言，48%的患者接受了双侧肺移植。5年和10年的无移植生存率分别为70%和30%。每年 FEV1 下降超过 127 毫升/年与死亡或移植风险增加有关（p = 0.005）。弥漫性肺LCDD的特点是女性居多、具有支气管扩张和/或囊肿的特殊影像学模式、进行性气道阻塞和严重的DLCO损伤以及预后不良。肺移植是首选治疗方法。

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来源期刊

Respiratory Research 医学-呼吸系统

自引率

1.70%

发文量

314

期刊介绍： Respiratory Research publishes high-quality clinical and basic research, review and commentary articles on all aspects of respiratory medicine and related diseases. As the leading fully open access journal in the field, Respiratory Research provides an essential resource for pulmonologists, allergists, immunologists and other physicians, researchers, healthcare workers and medical students with worldwide dissemination of articles resulting in high visibility and generating international discussion. Topics of specific interest include asthma, chronic obstructive pulmonary disease, cystic fibrosis, genetics, infectious diseases, interstitial lung diseases, lung development, lung tumors, occupational and environmental factors, pulmonary circulation, pulmonary pharmacology and therapeutics, respiratory immunology, respiratory physiology, and sleep-related respiratory problems.