title: Cystic fibrosis: experience in one institution.
abstract: Cystic fibrosis (CF) is one of the most common autosomal recessive inherited disorders among Caucasians. Comparatively, it is considered to be a rare disease among Asians. To date, only a few cases of Taiwanese CF have been published. We report four CF cases from three families. Case 1 was the first report of CF associated with a homozygosity for the CF transmembrane conductance regulator gene (CFTR gene) mutation 3849+10kb C->T in a Taiwanese patient. Cases 2 and 3 had heterozygous c. 1898+5 G->T and heterozygous p. I1023R (novel mutation) for the CFTR gene mutation. Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with cor pulmonale. These four patients had received 300 mg bid aerosolized tobramycin treatment every other month.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Ling-Chun
authors.initials: LC
authors.lastname: Liu
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan. Electronic address: kathyliu520@gmail.com.
authors.forename: Shyh-Dar
authors.initials: SD
authors.lastname: Shyur
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Szu-Hung
authors.initials: SH
authors.lastname: Chu
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Li-Hsin
authors.initials: LH
authors.lastname: Huang
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Yu-Hsuan
authors.initials: YH
authors.lastname: Kao
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Wei-Te
authors.initials: WT
authors.lastname: Lei
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chieh-Han
authors.initials: CH
authors.lastname: Cheng
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chia-Yi
authors.initials: CY
authors.lastname: Lo
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chen-Kuan
authors.initials: CK
authors.lastname: Chen
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Li-Ching
authors.initials: LC
authors.lastname: Fang
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013624:Taiwan; D055815:Young Adult
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator