肺科医师可能参与管理患有复杂临床表现而没有诊断的儿童的肺部疾病。此外,他们经常参与罕见疾病儿童的多学科护理,在基线和随访期间,用于肺功能监测。溶酶体贮积病(LSD)是一组以特定溶酶体酶缺乏为特征的遗传疾病。尽管不同的病原体和器官参与,它们与过量底物的病理积累有关,导致细胞毒性和随后的器官损伤。不太严重的LSD可以在童年或以后的生活中表现出来,有时被诊断不足。呼吸损伤可能源于不同的发病机制,取决于基质在骨骼中的储存,骨骼畸形和限制性模式,在支气管中,有阻碍的模式,在肺间质,改变了肺泡气体交换,在肌肉中,与低张力。这篇叙述性综述旨在概述不同的肺部临床发现和基于一些可治疗的LSD如戈谢病的鉴别诊断的关键要素的诊断方法。酸性鞘磷脂酶缺乏症,庞贝病和粘多糖贮积症。除了他们的呼吸道临床方面,可能会重叠,我们将描述放射学发现,肺功能模式和相关症状,以指导小儿肺科医师的鉴别诊断。本文的第二部分将讨论后续行动和管理细节。最近的证据表明,新的治疗策略在预防早期治疗患者的肺部受累以及增强其他患者的肺功能和放射学体征方面发挥着重要作用。及时诊断,在临床怀疑和诊断检查的驱使下,可以有效地治疗LSD。
Pulmonologists may be involved in managing pulmonary diseases in children with complex clinical pictures without a diagnosis. Moreover, they are routinely involved in the multidisciplinary care of children with rare diseases, at baseline and during follow-up, for lung function monitoring. Lysosomal storage diseases (LSDs) are a group of genetic diseases characterised by a specific lysosomal enzyme deficiency. Despite varying pathogen and organ involvement, they are linked by the pathological accumulation of exceeding substrates, leading to cellular toxicity and subsequent organ damage. Less severe forms of LSDs can manifest during childhood or later in life, sometimes being underdiagnosed. Respiratory impairment may stem from different pathogenetic mechanisms, depending on substrate storage in bones, with skeletal deformity and restrictive pattern, in bronchi, with obstructive pattern, in lung interstitium, with altered alveolar gas exchange, and in muscles, with hypotonia. This narrative review aims to outline different pulmonary clinical findings and a diagnostic approach based on key elements for differential diagnosis in some treatable LSDs like Gaucher disease, Acid Sphingomyelinase deficiency, Pompe disease and Mucopolysaccharidosis. Alongside their respiratory clinical aspects, which might overlap, we will describe radiological findings, lung functional patterns and associated symptoms to guide pediatric pulmonologists in differential diagnosis. The second part of the paper will address follow-up and management specifics. Recent evidence suggests that new therapeutic strategies play a substantial role in preventing lung involvement in early-treated patients and enhancing lung function and radiological signs in others. Timely diagnosis, driven by clinical suspicion and diagnostic workup, can help in treating LSDs effectively.