Lung Division, Department of Medicine, "M. Scarlato" Hospital, Scafati, Italy.
Nefrocenter Research S.c.arl, Cava de' Tirreni, Italy.
Respiration. 2023;102(11):919-923. doi: 10.1159/000533870. Epub 2023 Oct 16.
The current diagnostic criteria for amyotrophic lateral sclerosis (ALS) may remain unsatisfactory for months or years in the early disease. Pulmonary assessment has never been considered useful in the early diagnosis of ALS, and studies of pulmonary function in this patient category are lacking.
The objective of this study was to assess the pulmonary function in subjects with unspecific symptoms of ALS in whom an ALS diagnosis cannot be reached based on the current available guidelines.
We performed pulmonary function tests, arterial gas analysis, maximal inspiratory (MIP) and expiratory (MEP) pressure, and respiratory drive (P0.1) assessment in 35 patients with unspecific neurological symptoms at the time of the visit and those were subsequently diagnosed with ALS 2 years after the initial visit ("pre-ALS"); we compared these patients with 29 patients with established ALS and with 28 control subjects.
Spirometric parameters were not different between the three groups. However, MIP was significantly lower and P0.1 was significantly increased (with the ratio P0.1/MIP significantly higher) in both established and pre-ALS patients compared to controls, while both MIP and P0.1 were similar between established ALS and pre-ALS.
Changes in MIP, P0.1, and P0.1/MIP ratio are highly suggestive of preclinical ALS when the spirometry and neurodiagnostic tests are still inconclusive. MIP and P0.1 are noninvasive measurements that can be easily assessed in an ambulatory setting. Future studies on larger cohorts are needed to validate the use of these parameters in the preclinical diagnosis of ALS as well as in other neuromuscular diseases.
目前的肌萎缩侧索硬化症（ALS）诊断标准在疾病早期可能仍不满意数月甚至数年。肺部评估从未被认为对 ALS 的早期诊断有用，而且在这个患者群体中缺乏对肺功能的研究。
本研究旨在评估基于当前可用指南无法诊断为 ALS 的具有非特异性 ALS 症状的受试者的肺功能。
我们对 35 名在就诊时出现非特异性神经症状且随后在初次就诊后 2 年被诊断为 ALS（“前 ALS”）的患者进行了肺功能测试、动脉血气分析、最大吸气（MIP）和呼气（MEP）压以及呼吸驱动（P0.1）评估；我们将这些患者与 29 名已确诊的 ALS 患者和 28 名对照进行了比较。
三组之间的肺功能参数没有差异。然而，与对照组相比，MIP 在所有 ALS 患者和前 ALS 患者中均显著降低，P0.1 显著升高（P0.1/MIP 比值显著升高），而 MIP 和 P0.1 在已确诊的 ALS 和前 ALS 患者之间相似。
当肺功能和神经诊断测试仍然不确定时，MIP、P0.1 和 P0.1/MIP 比值的变化强烈提示存在临床前 ALS。MIP 和 P0.1 是可以在门诊环境中轻松评估的非侵入性测量。需要对更大的队列进行未来研究，以验证这些参数在 ALS 以及其他神经肌肉疾病的临床前诊断中的使用。
