J Korean Med Sci.
2006 Jun;21(3):563-566. 10.3346/jkms.2006.21.3.563.
Report of a Korean Patient with Cystic Fibrosis, Carrying Q98R and Q220X Mutations in the CFTR Gene
- Affiliations
-
- 1Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- 2Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu
- 3Department of Laboratory Medicine, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
- 4Division of Pulmonary and Critical Care Medicine, Department of Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
- KMID: 1778446
- DOI: http://doi.org/10.3346/jkms.2006.21.3.563
Abstract
- Although cystic fibrosis (CF) is one of the most frequently seen autosomal-recessive disorders in Caucasians, it is extremely rare in the Korean population. Recently, a 15-yr-old Korean boy was admitted to our hospital complaining of coughing, sputum, and exertional dyspnea. Chest radiographs and computed tomographic chest and paranasal sinus scans revealed diffuse bronchiectasis and pansinusitis. Pulmonary function tests revealed severe obstructive impairment. The average sweat chloride concentrations on both of the patients' forearms were 63.0 mM/L (reference limit: < 40 mM/L). Upon mutation analysis, two different mutations (Q98R and Q220X) were identified in the cystic fibrosis transmembrane conductance regulator gene, both of which had been previously detected in CF patients, one from France and the other from England. As CF is quite rare in Korea, the diagnosis of CF in this patient might be delayed. Therefore, we recommend that a diagnosis of CF should be suspected in patients exhibiting unexplained chronic respiratory symptoms.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A case Report of a Classic Cystic fibrosis Pediatric Patient in Korea Carrying Very Rare CFTR Gene Mutations (D993Y and Q220X)
- Cystic fibrosis in a female adolescent carrying c.263T>G (p.Leu88X) and c.2977G>T (p.Asp993Tyr) mutation
- Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis
- Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis
- F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients
