Figure 1 results of genetic testing of this patient (A: Standard DNA sequence; B: index case c.223C>T, p. Arg75x, heterozygous mutation, maternal; C: Standard DNA sequence; D: 1624G>T, p. Gly542x, heterozygous mutation, paternal)
Reference:
[1] Shi R, Wang X, Lu X, et al. A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis. Pediatr Pulmonol. 2020;55(11):3005-3011. doi:10.1002/ppul.24980
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[3] Chinese Experts Cystic Fibrosis Consensus Committee; Chinese Alliance for Rare Lung Diseases; Chinese Alliance for Rare Diseases, Bronchiectasis‑China. Chinese experts consensus statement: diagnosis and treatment of cystic fibrosis (2023). Chin J Tuberc Respir Dis, 2023, 46(4): 352-372. DOI: 10.3760/cma.j.cn112147-20221214-00971.
[4] Ni Q, Chen X, Zhang P, et al. Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians. Orphanet J Rare Dis. 2022;17(1):129. Published 2022 Mar 21. doi:10.1186/s13023-022-02279-9
[5] Na Zhang. Analysis of 8 cases of cystic fibrosis and literature review[D]. ShiJiaZhuang: Hebei Medical University,2022.
Rui Zhang1, Yao Sun2*
1Department of Pharmacy, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, China.
2Department of Pharmacy, Children’s Hospital of Nanjing Medical University, Nanjing, 210008, China.
*Corresponding author:
Yao Sun, M.D, Department of Pharmacy, Children’s Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing 210008, China.
E-mail: sarah_0515@163.com