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Case Reports
. 2004 Jun;3(2):135-6.
doi: 10.1016/j.jcf.2004.01.007.

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

Donatello Salvatore  1 , Rossella Tomaiuolo, Rosaria Abate, Borghina Vanacore, Sergio Manieri, Maria Pia Mirauda, Amelia Scavone, Maria Vittoria Schiavo, Giuseppe Castaldo, Francesco Salvatore
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Free article
Case Reports

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

Donatello Salvatore et al. J Cyst Fibros. 2004 Jun.
Free article

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.

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