Cystic fibrosis (CF) has been believed an autosomal recessive disorder unique and common among white people in Europe and America, rarely found in China and even Asia. CF-related research in China has almost been a blank. The Department of Respirology of PUMCH, working together with the Department of Medical Genetics, Institute of Basic Medical Sciences, discovered that CF may be no less common in Chinese and the key lies in screening. During the past two years the team, through perspiration test and gene test, discovered 7 Chinese patients of CF. The research result was published on Respirology in February 2015.

Recommended for the issue, the article indicates that both Chinese and western doctors should be aware that the western CF screening platform based on CFTR gene mutation may not be applicable to patients of Chinese origin; and doctors should pay attention to Chinese CF patients of atypical clinical expressions. “The research might have revealed a tip of the iceberg of the huge number of CF patients in China. By building a new screening platform we can provide timely diagnosis and treatment for more patients,” said Associate Professor Tian Xinlun, corresponding author of the article.