Necrotizing pneumonia and diffuse bronchiectasis with a heterozygous CFTR c.4056G>C variant: A rare case report
Main Article Content
Abstract
Cystic fibrosis (CF) is an autosomal recessive inherited disorder caused by pathogenic mutations in the CFTR gene and is very rare in Asian countries, including Vietnam. Clinical manifestations commonly include recurrent respiratory infections, chronic bronchitis, and progressive bronchiectasis; in some cases, patients may develop severe complications such as necrotizing pneumonia or lung abscess. We report the case of a 4-year-old boy who was admitted with severe pneumonia complicated by sepsis and septic shock. Chest computed tomography revealed necrotizing pneumonia and diffuse bilateral bronchiectasis. In the etiological workup for early-onset bronchiectasis, we identified the heterozygous CFTR variant c.4056G>C (p.Gln1352His), suggesting the possibility of an atypical cystic fibrosis-related disorder. This case highlights the importance of investigating underlying diseases in children presenting with severe pneumonia and early-onset bronchiectasis, and demonstrates the role of genetic testing in the diagnostic approach to the etiology of bronchiectasis in countries with a low prevalence of CF.
Article Details
Keywords
Necrotizing pneumonia, bronchiectasis, cystic fibrosis, CFTR gene mutation
References
2. Elborn JS. Cystic fibrosis. Lancet. 2016 Nov 19;388(10059):2519-2531. doi: 10.1016/S0140-6736(16)00576-6.
3. Bell SC, Mall MA, Gutierrez H, et al. The future of cystic fibrosis care: a global perspective. Lancet Respir Med. 2020 Jan;8(1):65-124. doi: 10.1016/S2213-2600(19)30337-6.
4. Cao-Pham HG, Tran-Le QK, Nguyen-Ho L. Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum. J Community Genet. 2025 Jun;16(3):221-225. doi: 10.1007/s12687-025-00807-1.
5. Chang AB, Fortescue R, Grimwood K, et al. European Respiratory Society guidelines for the management of children and adolescents with bronchiectasis. Eur Respir J. 2021 Aug 26;58(2):2002990. doi: 10.1183/13993003.02990-2020.
6. Chang AB, Bush A, Grimwood K. Bronchiectasis in children: diagnosis and treatment. Lancet. 2018 Sep 8;392(10150):866-879. doi: 10.1016/S0140-6736(18)31554-X. Bottom of Form
7. Shapiro AJ, Zariwala MA, Ferkol T, et al Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016 Feb;51(2):115-32. doi: 10.1002/ppul.23304.
8. Castellani C, Duff AJA, Bell SC, et al. ECFS best practice guidelines: the 2018 revision. J Cyst Fibros. 2018 Mar;17(2):153-178. doi: 10.1016/j.jcf.2018.02.006.
9. Sawicki GS, Lu FL, Valim C, et al. Necrotising pneumonia is an increasingly detected complication of pneumonia in children. Eur Respir J. 2008 Jun;31(6):1285-91. doi: 10.1183/09031936.00099807.
10. Tiddens HA, de Jong PA. Imaging and clinical trials in cystic fibrosis. Proc Am Thorac Soc. 2007 Aug 1;4(4):343-6. doi: 10.1513/pats.200611-174HT.
11. Farrell PM, White TB, Ren CL, et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017 Feb;181S:S4-S15.e1. doi: 10.1016/j.jpeds.2016.09.064.