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

Donatello Salvatore, Rossella Tomaiuolo, Rosaria Abate, Borghina Vanacore, Sergio Manieri, Maria Pia Mirauda, Amelia Scavone, Maria Vittoria Schiavo, Giuseppe Castaldo, Francesco Salvatore

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)135-136
Number of pages2
JournalJournal of Cystic Fibrosis
Volume3
Issue number2
DOIs
Publication statusPublished - Jun 2004

Keywords

  • Cystic fibrosis
  • Metabolic alkalosis
  • Pancreatic sufficiency

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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