代谢组学在儿童囊性纤维化中的应用进展

Progress in Application of Metabolomics in Childhood Cystic Fibrosis

囊性纤维化(cystic fibrosis, CF)是一种以肺部疾病伴随多系统受累的遗传性疾病,随着近年来对该病认识的提高及基因检测技术的发展,更多的患儿被诊断出来,但目前对该病的致病机制、诊断、治疗及预后仍处于研究中。代谢组学可以全面系统或有针对性地识别和量化生物样本中的代谢物,对代谢物进行综合评估,使之成为CF研究中的有利工具。本文就代谢组学在儿童CF中的应用进展进行综述,重点概述代谢组学在CF患儿代谢产物特点、慢性炎症、病原学及急性加重期等方面的应用进展。

Cystic fibrosis (CF) is a hereditary disease characterized by pulmonary complications and systemic involvement. In recent years, advancements in the comprehension of CF, along with the evolution of genetic testing methodologies, have facilitated increased diagnoses in pediatric populations. However, various aspects including the disease’s etiology, diagnostic approaches, therapeutic interventions, and prognostic factors remain subjects of ongoing research. The field of metab-olomics presents a robust and systematic approach to comprehensively identify and quantify metabolites within biological samples. This capability allows for a comprehensive assessment of metabolite abundance, rendering it an invaluable tool in conducting research pertaining to cystic fibrosis. The present article provides a comprehensive overview of the advancements in metabo-lomics application for pediatric CF patients, with a specific focus on the characterization of metab-olites, chronic inflammation, etiology, and acute exacerbation in children with CF.