Cystic fibrosis: Experience in one institution

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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 300mg bid aerosolized tobramycin treatment every other month. © 2012.

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Liu, L. C., Shyur, S. D., Chu, S. H., Huang, L. H., Kao, Y. H., Lei, W. T., … Fang, L. C. (2014). Cystic fibrosis: Experience in one institution. Journal of Microbiology, Immunology and Infection, 47(4), 358–361. https://doi.org/10.1016/j.jmii.2012.06.005

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