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

• Koh WJ
• Ki CS
• Kim JW
• Kim JH
• Lim SY

• 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.

Keyword

Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator, CFTR; Mutation

MeSH Terms

Radiography, Thoracic
Pedigree
*Mutation
Male
Korea
Humans
Heterozygote
*Genetic Predisposition to Disease
Female
DNA Mutational Analysis
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics
Cystic Fibrosis/*genetics
Adolescent

Figure

• 

  Fig. 1 Chest plain radiograph shows diffuse reticulonodular densities in both central lung areas with symmetricity (A). A tram tract sign is noted in right middle lung zone, representing bronchiectasis. On computed tomographic image with lung window setting, diffuse bronchiectasis and bronchiolectasis are seen in both lungs with ill-defined small centrilobular nodules, representing associated bronchiolitis. Underlying lung parenchyme is hyperlucent due to air-trapping (B).

• 

  Fig. 2 Pedigree of a Korean family with cystic fibrosis. A heterozygous Q98R mutation is found in the father, brother, and the proband, and another heterozygous Q220X mutation is found in the mother and the proband. Squares indicate males, circles indicate females, and an arrow indicates the proband. Open symbols with or without central dot indicate carriers and an unaffected family member, respectively, and a darkened symbol indicates an affected family member.

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