INTRODUCTION
Cystic fibrosis (CF) is a serious and life-shortening autosomal
recessive disorder, affecting approximately 100,000 persons worldwide,
and characterized by defective chloride transport channel in epithelial
cells of exocrine tissues[1]. The progression of
the disease may result in multi-system dysfunction, including
sinopulmonary disease, meconium ileus, pancreatic insufficiency and
sweat electrolyte abnormalities. To date, approximately 2000 mutations
in the CFTR gene have been reported
worldwide[2]. The epidemiology of CF is well
studied in Caucasians from developed countries, however, the data on the
incidence of CF in China mainly come from studies with small sample size
or case reports over the past 4 decades. Up to now, only approximately
110 CF patients of Chinese origin were reported in
literature[3]. In this report, we present a
pediatric case with severe CF phenotype and
c.1521_1523delCTT/c.3874-4522A>G genotype, which is
extremely rare in Chinese population.