Cystic fibrosis caused by S945L variation：a case report and literature review

Abstract:

Objective：To report one case of cystic fibrosis（CF） caused by S945L variation，and to investigate the present state and perspectives of molecular targeted therapy for this disease in China. Methods：The clinical data and gene mutation of a CF case caused by S945L mutation in cystic fibrosis transmembrane conductance regulator（CFTR） special site in Children’s Hospital of Chongqing Medical University were analyzed. The literature till July 2019 was searched with key words of “cystic fibrosis” and “China” in the database of CNKI，Wanfang，VIP，PubMed and Embase. The clinical data and gene mutation of patients with cystic fibrosis caused by special mutations of CFTR gene reported in China were summarized and analyzed in combination with the literature. Results：The patient had recurrent respiratory tract infection and poor nutritional status，with chest CT suggesting extensive bronchiectasis. Results of sweat chloride concentration test were 74 mmol/L and 75 mmol/L，respectively. Gene detection demonstrated CFTR gene R851X/S945L compound heterozygous mutation，which ws finally diagnosed as CF. According to the literature review，90 patients with CF were reported in China，and 5 patients carried specific mutation sites that could be treated with molecularly targeted treatment. The 15 children with the G970D mutation were most likely to be treated with gene targeting therapy，without confirmed clinical study. Conclusion：Children with recurrent respiratory tract infection，slow growth development and extensive bronchiectasis should guard against CF and the CFTR is in need. In China，more CF patients meet the requirements of targeted drug ther－apy，with considerable treatment prospect. Therefore，more clin－ical studies should be carried out when necessary，so as to in－crease patients’ life span and improve life quality.