Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases

Xiaobei Guo†,
Keqiang Liu†,
Yaping LiuEmail author,
Yusen Situ,
Xinlun TianEmail author View ORCID ID profile,
Kai-Feng Xu and
Xue Zhang

†Contributed equally

Orphanet Journal of Rare Diseases201813:224

https://doi.org/10.1186/s13023-018-0968-2

Received: 23 September 2018
Accepted: 4 December 2018
Published: 17 December 2018

Abstract

Cystic fibrosis (CF) is a rare disease most commonly seen in Caucasians. Only a few Chinese CF patients have been described in literature, taking into account the large population of China. In this systematic review, we collected the clinical and genetic information of 71 Chinese CF patients based on all available data. Compared with Caucasians, Chinese CF patients often present atypical symptoms, mainly displaying symptoms of pulmonary infection with fewer digestive symptoms. An ethnicity-specific CFTR variant spectrum was also observed in CF patients of Chinese origin, with p.Gly970Asp as the most common mutation while p.Phe508del, the most common pathogenic mutation in CF patients of Caucasian origin, is rare, suggesting the necessity of a Chinese-specific CFTR variant screening panel. Besides, multiplex ligation-dependent probe amplification analysis should be routinely considered, especially for those with unidentified mutations. Potential under-diagnosis of CF in Chinese patients might be caused by a combination of atypical clinical features and genetic heterogeneity in Chinese CF patients, the inaccessibility of sweat and genetic testing facilities, and the one-child policy in China. With the approval of promising small molecule correctors and potentiators, molecular characterization of Chinese-specific CFTR mutations will help to realize more precise treatment for Chinese CF patients.