title: Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Young June
authors.initials: YJ
authors.lastname: Choe
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
authors.forename: Jae Jun
authors.initials: JJ
authors.lastname: Han
authors.forename: Jung Ok
authors.initials: JO
authors.lastname: Shim
authors.forename: Young Yull
authors.initials: YY
authors.lastname: Koh
authors.forename: Ran
authors.initials: R
authors.lastname: Lee
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Jung Ho
authors.initials: JH
authors.lastname: Kim
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D003937:Diagnosis, Differential; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D056910:Republic of Korea; D045602:Steatorrhea / Q000175:diagnosis
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator