S-Space College of Medicine/School of Medicine (의과대학/대학원) Pediatrics (소아과학전공) Journal Papers (저널논문_소아과학전공)
Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency
- Choe, Young June; Ko, Jae Sung; Seo, Jeong Kee; Han, Jae Jun; Koh, Young Yull; Ki, Chang-Seok; Kim, Jung Ho; Kim, Jong-Won; Lee, Ran; Shim, Jung Ok
- Issue Date
- KOREAN ACAD MEDICAL SCIENCES
- JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 1; 163-165
- Cystic Fibrosis; Mutation; Exocrine Pancreatic Insufficiency; Cystic Fibrosis Conductance Regulator
- 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.