J Korean Med Sci.  2010 Jan;25(1):163-165. 10.3346/jkms.2010.25.1.163.

Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency

Affiliations
  • 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jkseo@snu.ac.kr
  • 2Department of Pediatrics, Konkuk University School of Medicine, Seoul, Korea.
  • 3Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 4Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

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.

Keyword

Cystic Fibrosis; Cystic Fibrosis Conductance Regulator; Exocrine Pancreatic Insufficiency; Mutation

MeSH Terms

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
Cystic Fibrosis Transmembrane Conductance Regulator
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