Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency.
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.
Choe
Young June
YJ
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Ko
Jae Sung
JS
Seo
Jeong Kee
JK
Han
Jae Jun
JJ
Shim
Jung Ok
JO
Koh
Young Yull
YY
Lee
Ran
R
Ki
Chang-Seok
CS
Kim
Jong-Won
JW
Kim
Jung Ho
JH
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
D019005:Cystic Fibrosis Transmembrane Conductance Regulator