While discovery metabolomic studies have identified many potential biomarkers of cystic fibrosis (CF) airways disease, relatively few have been validated. We review the recent literature to identify the most promising metabolomic findings as those repeatedly observed over multiple studies. Reproducible metabolomic findings include increased airway amino acids and small peptides in CF airways, as well as changes in phospholipids and sphingolipids. Other commonly altered pathways include adenosine metabolism, polyamine synthesis, and oxidative stress. These pathways represent potential biomarkers and therapeutic targets, though findings require reevaluation in the era of highly effective modulator therapies. Analysis of airway biomarkers in exhaled breath holds promise for non-invasive detection, though technical challenges will need to be overcome.

虽然代谢组学研究已发现许多囊性纤维化 (CF) 气道疾病的潜在生物标志物，但经过验证的生物标志物相对较少。我们回顾了最近的文献，以确定最有希望的代谢组学发现，这些发现是在多项研究中反复观察到的。可重复的代谢组学发现包括 CF 气道中气道氨基酸和小肽的增加，以及磷脂和鞘脂的变化。其他常见改变的途径包括腺苷代谢、多胺合成和氧化应激。这些途径代表了潜在的生物标志物和治疗靶点，尽管在高效调节剂疗法时代需要重新评估研究结果。尽管需要克服技术挑战，但呼出气中气道生物标志物的分析有望实现非侵入性检测。