Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation

J Cyst Fibros. 2004 Jun;3(2):135-6. doi: 10.1016/j.jcf.2004.01.007.


We report on a 10-month-old boy with hypotonic dehydration and metabolic alkalosis. Sweat test was borderline and genetic analysis was negative for common mutations. Analysis of the whole coding regions of the CFTR gene revealed the rare mutation D579G in homozygosity.

Publication types

  • Case Reports

MeSH terms

  • Alkalosis / diagnosis*
  • Alkalosis / etiology
  • Alkalosis / genetics*
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Homozygote
  • Humans
  • Infant
  • Male
  • Mutation, Missense*


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator