Cystic fibrosis: Experience in one institution
| Autor: | Szu-Hung Chu, Chieh-Han Cheng, Chia-Yi Lo, Ling-Chun Liu, Wei Te Lei, Shyh-Dar Shyur, Li-Ching Fang, Li-Hsin Huang, Chen-Kuan Chen, Yu-Hsuan Kao |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Microbiology (medical) medicine.medical_specialty Adolescent Cystic Fibrosis Genotype Taiwan Cystic Fibrosis Transmembrane Conductance Regulator Gastroenterology Cystic fibrosis Young Adult Internal medicine Immunology and Microbiology(all) medicine Tobramycin Humans Immunology and Allergy Child Cystic fibrosis transmembrane conductance regulator gene (CFTR gene) Regulator gene General Immunology and Microbiology biology business.industry General Medicine medicine.disease Cystic fibrosis transmembrane conductance regulator Pedigree Endocrinology Infectious Diseases Mutation (genetic algorithm) Mutation biology.protein Female business Novel mutation medicine.drug Rare disease |
| Zdroj: | Journal of Microbiology, Immunology and Infection. 47(4):358-361 |
| ISSN: | 1684-1182 |
| DOI: | 10.1016/j.jmii.2012.06.005 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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