Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency

Young June Choe, Jae Sung Ko, Jeong Kee Seo, Jae Jun Han, Jung Ok Shim, Young Yull Koh, Ran Lee, Chang Seok Ki, Jong Won Kim, Jung Ho Kim

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5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)163-165
Number of pages3
JournalJournal of Korean Medical Science
Volume25
Issue number1
DOIs
Publication statusPublished - 2010 Jan 1
Externally publishedYes

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Keywords

  • Cystic fibrosis
  • Cystic fibrosis conductance regulator
  • Exocrine pancreatic insufficiency
  • Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Choe, Y. J., Ko, J. S., Seo, J. K., Han, J. J., Shim, J. O., Koh, Y. Y., Lee, R., Ki, C. S., Kim, J. W., & Kim, J. H. (2010). Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency. Journal of Korean Medical Science, 25(1), 163-165. https://doi.org/10.3346/jkms.2010.25.1.163