Case Report of a Chinese Cystic Fibrosis Boy with the
c.1521_1523delCTT/c.3874-4522A>G Genotypes
Abstract
This report entails a case of an 11-year-old Chinese boy with cystic
fibrosis (CF), who bears the
c.1521_1523delCTT/c.3874-4522A>G genotype, which is
extremely rare in Chinese population. Notably, the deep intron mutation
c.3874-4522A>G was the first time identified among Chinese
patients, which was reported mainly associated with mild phenotype. It
is generally considered that a mild allele sustains CFTR function
in a dominant fashion, even if paired with a severe allele. However, in
the present report, the c.3874-4522A>G mutation was found
related to severe pulmonary diseases, including early symptom onset,
progressive bronchiectasis, recurrent airway P. aeruginosa
combined with MRSA, rapid decline of lung function, and poor weight
gain, which suggesting severe phenotype. Despite intensive chest care
and optimized therapy, the child ultimately died of cardiopulmonary
failure 3 months after discharge.