Respirology. 2015 Feb;20(2):312-8. doi: 10.1111/resp.12452.

Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients.

Liu Y1, Wang L, Tian X, Xu KF, Xu W, Li X, Yue C, Zhang P, Xiao Y, Zhang X.
  • 1Department of Medical Genetics, School of Basic Medicine Peking Union Medical College, Beijing, China.

PMID: 25580864



Cystic fibrosis (CF) is a common autosomally inherited Mendelian disorder in Caucasians, but it has been thought to be a very rare disease in Asians and CF-related researches were very limited in China. In this article, we reported seven CF patients of Chinese Han origin from an academic hospital, Peking Union Medical College Hospital. We investigated the clinical characteristics and genotypes in those CF patients.

In our group, the age of onset of CF patients were between 0 and 6 years, and their diagnosis ages were extended to their puberty or adulthood. Interestingly, none of the seven patients had a family history of CF and only one patient had parents that were consanguineous.

Pseudomonas Aeruginosa was the most common pathogen found in five of our patients. Gastrointestinal symptoms were only appeared in two patients with negative results of stool Sudan Ⅲ. Allergic bronchopulmonary aspergillosis coexisted in more than half of our group. The concentration of chloride in patients’ sweat ranged from 66 to 154 mmol/l, and it was somewhat higher than previous reports. Meanwhile, we identified 11 different mutations in seven CF patients, including one novel mutation (△E7-E11). Only one of these mutations (R553X) was present in the Caucasian CFTR common mutation-screening panel; and the most common mutation in Caucasians, F△508 were not detected from the 11 mutations. None of the patients had been diagnosed with CF at the time of presentation; they had been diagnosed as tuberculosis (3/7), ABPA (3/7), idiopathic bronchiectasis (3/7) or recurrent pneumonia (1/7) during their long term seeking for medical care. Since the high prevalence of tuberculosis existed in mainland China, patients were treated by anti-tuberculosis therapy for years because of bronchiectasis that predominantly affected the upper lobes. Because of the low awareness of CF, lacking of sweat tests and genetic testing in most hospitals, it is not surprising that Chinese physicians failed to diagnose CF.

In summary, CF in China is difficult to diagnose not only because of low awareness, atypical clinical symptoms, but a lack of sweat tests and genetic tests in most hospitals as well. Besides, the mutations identified in Chinese CF patients were different from the common gene mutations in Caucasians.

The importance of this article is as follow: 1) CF in China might not be as rare as we thought before; 2) using common CFTR mutation screening plat-form to screen pathogenic mutations in Chinese CF patients was unsuitable. Physicians in both Western countries and China should be aware that the results from CF screening panel established by Caucasians populations are not reliable in Chinese patients.




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