J Korean Med Sci.  2005 Feb;20(1):153-157. 10.3346/jkms.2005.20.1.153.

Cystic Fibrosis in Korean Children: A Case Report Identified by a Quantitative Pilocarpine Iontophoresis Sweat Test and Genetic Analysis

• Ahn KM
• Park HY
• Lee JH
• Lee MG
• Kim JH
• Kang IJ
• Lee SI

• KMID: 1781745
• DOI: http://doi.org/10.3346/jkms.2005.20.1.153

Abstract

Cystic fibrosis (CF) is inherited as an autosomal recessive trait, and the mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene contributes to the CF syndrome. Although CF is common in Caucasians, it is known to be rare in Asians. Recently, we experienced two cases of CF in Korean children. The patients were girls with chronic productive cough since early infancy. Chest computed tomography showed the diffuse bronchiectasis in both lungs, and their diagnosis was confirmed by the repeated analysis of a quantitative pilocarpine iontophoresis test (QPIT). The sweat chloride concentrations of the first patient were 108.1 mM/L and 96.7 mM/L. The genetic analysis revealed that she was the compound heterozygote of Q1291X and IVS8 T5 -M470V. In the second case, the sweat chloride concentrations were 95.0 mM/L and 77.5 mM/L. Although we performed a comprehensive search for the coding regions and exonintron splicing junctions of CFTR gene, no obvious disease-related mutations were detected in the second case. To our knowledge, this is the first report of CF in Korean children identified by a QPIT and genetic analysis. The possibility of CF should be suspected in those patients with chronic respiratory symptoms even in Korea.

Keyword

Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Sweat; Child; Korea

MeSH Terms

Blood Pressure
Bronchiectasis/diagnosis/pathology
Child
Cough
Cystic Fibrosis/*diagnosis/*genetics
Cystic Fibrosis Transmembrane Conductance Regulator/genetics
DNA Mutational Analysis
Exons
Female
Heterozygote
Humans
Introns
Iontophoresis/*methods
Korea
Lung/pathology/radiography
Muscarinic Agonists/*pharmacology
Mutation
Pancreas/pathology
Pedigree
Phenotype
Pilocarpine/*pharmacology
Polymorphism, Genetic
Research Support, Non-U.S. Gov't
Sinusitis/diagnosis/pathology
Sweat
Time Factors
Tomography, X-Ray Computed

Figure

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  Fig. 1 Radiologic findings of case 1. Plain radiography (A) and computed tomography (CT) scan (B) reveal bronchiectasis. Pancreatic atrophy is found in abdomen CT scan (C).

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  Fig. 2 Family pedigree of the disease-associated CFTR mutations in case 1. Disease associated genetic variations are shown in bold letters.

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  Fig. 3 CT findings, coronal view in case 2. Pansinusitis with polyposis is shown.

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