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논문 기본 정보

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학술저널
저자정보
Kim Hyung Young (Department of Pediatrics Dongnam Institute of Radiological) Hong Soo-Jong (Department of Pediatrics Childhood Asthma Atopy Center Asan Medical Center University of Ulsan Coll) Ahn Kangmo (Department of Pediatrics Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Ko) Suh Dong In (Department of Pediatrics Seoul National University Hospital Seoul National University College of Me) Noh Shin Hye (Department of Pharmacology Severance Biomedical Science Institute Yonsei University College of Medi) Kim Soo Yeon (Department of Pediatrics Severance Hospital Yonsei University College of Medicine Seoul Korea.) 유진호 (Department of Pediatrics Childhood Asthma Atopy Center Asan Medical Center University of Ulsan Coll) Ko Jung Min (Department of Pediatrics Seoul National University Hospital Seoul National University College of Me) Lee Min Goo (Department of Pharmacology Severance Biomedical Science Institute Yonsei University College of Medi) 김경원 (Department of Pediatrics Severance Hospital Yonsei University College of Medicine Seoul Korea.Insti)
저널정보
대한천식알레르기학회(구 대한알레르기학회) Allergy, Asthma & Immunology Research Allergy, Asthma & Immunology Research Vol.14 No.5
발행연도
2022.9
수록면
494 - 504 (11page)
DOI
10.4168/aair.2022.14.5.494

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Purpose: Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is rare among non-Caucasians. We aimed to identify the clinical features and CFTR mutations in Korean children. Methods: We included 18 pediatric patients with CF diagnosed using sweat chloride test or genetic analysis for 30 years. HEK293 cells were transfected with wild-type CFTR, ΔF508-CFTR, and L441P-CFTR mutant plasmids for 24 hours and treated with CFTR correctors (VX809 and VX661). Results: The median age at diagnosis was 9.2 years. Eleven patients had growth retardation, and 6 had a respiratory failure at diagnosis. Genetic analysis was used for all patients, while sweat testing was for 8 patients. At diagnosis, the median z scores of forced expiratory volume in one second (FEV1), FEV1/forced vital capacity, and forced expiratory flow at 25%–75% of forced vital capacity were −3.61 (−5.78, 1.78), −3.38 (−4.40, −0.60), and −4.45 (−5.78, 0.54), respectively. Two patients were treated with dornase alfa and only one with CFTR modulator. Patients were followed up for 3.7 years as a median. Four patients died at 10.6 years, with 4.2 years of post-diagnosis survival. The most common mutation was exon 16-17b deletion (19.4%). Among 11 single nucleotide variants, c.1322T>C (p.Leu441Pro, L441P) was detected in 4 patients. In the functional assay, L441P-CFTR correction was well restored by CFTR correctors compared with ΔF508. Conclusions: CF is extremely rare in Korean children and is caused by different mutations from those commonly observed in Caucasians. Early diagnosis and treatment availability may improve outcomes. CFTR modulators may be effective for Asian patients with rare CFTR mutations, c.1322T>C (p.Leu441Pro).
#Cystic fibrosis #cystic fibrosis transmembrane conductance regulator #mutation #child #Korea

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