European Respiratory Review ( IF 7.5 ) Pub Date : 2021-04-29 , DOI: 10.1183/16000617.0363-2020 Raphaël Borie 1, 2 , Bruno Crestani 2, 3 , Alice Guyard 4 , Olivier Lidove 5, 6
Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosomal enzymes. Three LSDs are associated with lung involvement and/or interstitial lung disease (ILD): Gaucher disease (GD); Niemann–Pick disease, also known as acid sphingomyelinase deficiency (ASMD); and Fabry disease (FD). In GD and in ASMD, analysis of bronchoalveolar lavage fluid and lung biopsy can be informative, showing foamy cells. In GD, ILD is rare. Enzyme replacement therapy (ERT) has been available since 1991 and has greatly changed the natural history of GD, with pulmonary failure and death reported before the ERT era. In ASMD, ILD is frequent and is usually associated with spleen enlargement, low platelet cell count and low level of high-density lipoprotein-cholesterol. Results of ERT are promising regarding preliminary results of olipudase alfa in paediatric and adult ASMD populations. The most frequent respiratory manifestation in FD is COPD-like symptoms regardless of smoking habit and dyspnoea due to congestive heart failure. Early diagnosis of these three LSDs is crucial to prevent irreversible organ damage. Early initiation of ERT can, at least in part, prevent organ failure.
中文翻译:
溶酶体贮积症中的间质性肺病
溶酶体是负责降解和回收大分子的细胞内细胞器。溶酶体贮积病 (LSD) 是一组遗传性疾病,由影响编码溶酶体酶功能的基因的突变引起。三种 LSD 与肺部受累和/或间质性肺病 (ILD) 相关:戈谢病 (GD);尼曼-匹克病,也称为酸性鞘磷脂酶缺乏症 (ASMD);和法布里病 (FD)。在 GD 和 ASMD 中,支气管肺泡灌洗液分析和肺活检可以提供信息,显示泡沫细胞。在 GD 中,ILD 很少见。酶替代疗法 (ERT) 自 1991 年问世以来,极大地改变了 GD 的自然病程,在 ERT 时代之前就有肺衰竭和死亡的报道。在 ASMD 中,ILD 很常见,通常与脾肿大有关,低血小板细胞计数和低水平的高密度脂蛋白胆固醇。ERT 的结果对于 olipudase alfa 在儿科和成人 ASMD 人群中的初步结果是有希望的。FD 最常见的呼吸系统表现是 COPD 样症状,与吸烟习惯和充血性心力衰竭引起的呼吸困难无关。这三种 LSD 的早期诊断对于防止不可逆的器官损伤至关重要。早期开始 ERT 至少可以部分预防器官衰竭。这三种 LSD 的早期诊断对于防止不可逆的器官损伤至关重要。早期开始 ERT 至少可以部分预防器官衰竭。这三种 LSD 的早期诊断对于防止不可逆的器官损伤至关重要。早期开始 ERT 至少可以部分预防器官衰竭。