Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutations including a splice site mutation (c.1766+2T>C) and a frameshift mutation (c.3908dupA; Asn1303LysfsX6). Pancreatic enzyme replacement and fat-soluble vitamin supplementation enabled the patient to get a catch-up growth. This is the first report of a Korean patient with CF demonstrating pancreatic insufficiency. CF should therefore be considered in the differential diagnosis of infants with steatorrhea and failure to thrive.
Alternative Splicing ; Base Sequence ; Cystic Fibrosis/complications/diagnosis/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; Diagnosis, Differential ; Exocrine Pancreatic Insufficiency/complications/diagnosis/*genetics ; Female ; Frameshift Mutation ; Humans ; Infant ; Republic of Korea ; Steatorrhea/diagnosis

Abnormalities, Multiple ; genetics ; pathology ; Child, Preschool ; Chromosome Aberrations ; Diagnosis, Differential ; Diarrhea ; diagnosis ; etiology ; therapy ; Exocrine Pancreatic Insufficiency ; complications ; Fever ; diagnosis ; etiology ; Fingers ; abnormalities ; Humans ; Male ; Pancreatic Diseases ; etiology ; Syndrome