Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
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 exon-intron 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.
Ahn
Kang Mo
KM
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Park
Hwa Young
HY
Lee
Ji Hyun
JH
Lee
Min Goo
MG
Kim
Jeong Ho
JH
Kang
Im Ju
IJ
Lee
Sang Il
SI
D001794:Blood Pressure; D001987:Bronchiectasis / Q000175:diagnosis / Q000473:pathology; D002648:Child; D003371:Cough; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007438:Introns; D007478:Iontophoresis / Q000379:methods*; D007723:Korea; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D018721:Muscarinic Agonists / Q000494:pharmacology*; D009154:Mutation; D010179:Pancreas / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D010862:Pilocarpine / Q000494:pharmacology*; D011110:Polymorphism, Genetic; D012852:Sinusitis / Q000175:diagnosis / Q000473:pathology; D013542:Sweat; D013997:Time Factors; D014057:Tomography, X-Ray Computed
C505032:CFTR protein, human; D018721:Muscarinic Agonists; D010862:Pilocarpine; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
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