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Volume 47, Number 4, August 2014

Cystic fibrosis: Experience in one institution 


Ling-Chun Liu, Shyh-Dar Shyur, Szu-Hung Chu, Li-Hsin Huang, Yu-Hsuan Kao, Wei-Te Lei, Chieh-Han Cheng, Chia-Yi Lo, Chen-Kuan Chen, Li-Ching Fang


Received: August 1, 2014    Revised: August 1, 2014    Accepted: August 1, 2014   

 

Corresponding author:

Shyh-Dar Shyur, Corresponding author. Department of Pediatrics, Mackay Memorial Hospital, Number 92, Section 2 Chungshan North Road, Taipei, Taiwan. 



 

Background and purpose: 

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. 



 

Key words:

Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator gene (CFTR gene), Taiwan