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

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 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.

Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis

“…Although this change is described as a sequence variant based on its relative frequency (Cystic Fibrosis Mutation databasehttp://www.genet.sickkids.on.ca/ cftr/), it has been associated with clinical significance when found in combination with the 5T allele in intron eight [28]. Although our two patients were homozygous for the common 7T allele in intron eight, it is conceivable that the M470V amino acid substitution results in a minor contribution to the development of the phenotypic spectrum of CF [29][30][31]. The frequency of the M470V allele in the Egyptian population is not known.…”

Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a multi-ethnic society

“…Although uncommon, CF has been found among Africans and Asians, and HbPs have also been found among Europeans. [27][28][29][30] Some carriers, therefore, will be falsely excluded from screening on the basis of ancestry. Bobadilla et al 6 argued that disease-based data about CF prevalence in Africa may be artificial (because the condition is masked by non-survival based in other factors), and a The categories "Only Instrument A matches with interview," "Only Instrument B matches with interview," and "Both instruments incorrect" were combined in the column "No" because the number of cases in these categories were too small and there were no statistical differences found between these three categories.…”

Chest CT Features of Cystic Fibrosis in Korea: Comparison with Non-Cystic Fibrosis Diseases

“…The incidence of CF is about 0.3 in 100000 in the Japanese population (2). CF is also rare in Korea, with 10 reported mostly in infants or children (345678910). Although CF has been diagnosed with the standardized sweat chloride analysis, it is now largely diagnosed with the CFTR gene test (178).…”