Current Status and the Need for CFTR Modulator Therapy in Cystic Fibrosis Patients in Mainland China: A Case Report and Literature Review.

BACKGROUND

Cystic fibrosis (CF) is a life-threatening genetic disorder characterized by dysfunctional mucus production, leading to severe respiratory and digestive complications. CF transmembrane conductance regulator (CFTR) modulators are highly effective targeted therapies for CF; however, they are not yet available in mainland China, resulting in no published reports on their use in Chinese CF patients.

OBJECTIVE

To report a case of CF patient with compound heterozygous CFTR mutations (c.2909G〉A/c.2491-2A〉G) treated withelexacaftor/tezacaftor/ivacaftor (ETI) in China and summarize the diagnosis and treatment status based on a literature review, exploring the potential efficacy of CFTR modulators in the Chinese population.

METHODS

Case Report: Clinical data and treatment response of a CF patient receiving ETI were analyzed.

LITERATURE REVIEW: PubMed, CNKI, and Wanfang were searched (Jan 2010-Aug 2025) to identify CF cases reported in China. A total of 71 cases were included for analysis of diagnosis, treatment, and outcomes.

RESULTS

Case Outcome: The patient showed significant clinical improvement within 2 weeks after ETI initiation. Literature Analysis: The 71 cases demonstrated heterogeneity in diagnosis and treatment, with most relying on supportive therapies and lacking gene-targeted interventions. Status Summary: CF diagnosis rates are low in China, genetic testing is insufficient, and CFTR modulator accessibility is limited.

CONCLUSION

This study presents the first report of CFTR modulator efficacy in a Chinese patient, indicating potential treatment benefits. It underscores the urgent need to improve CF awareness, establish a CF genetic mutation database, and expedite CFTR modulator approval/access to promote personalized treatment and outcomes.