Journal of Cystic Fibrosis
Volume 3, Issue 2 , Pages 135-136, June 2004

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

  • Donatello Salvatore

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +39-971-613213; fax: +39-971-612245.
    • Cystic Fibrosis Center, Pediatric Division, San Carlo Hospital, Potenza, I-85100, Italy
    • ,
  • Rossella Tomaiuolo

      Affiliations

    • Ceinge-Advanced Biotechnologies and Department of Biochemistry and Medical Biotechnologies, University of Naples “Federico II”, Naples, Italy
    • ,
  • Rosaria Abate

      Affiliations

    • Cystic Fibrosis Center, Pediatric Division, San Carlo Hospital, Potenza, I-85100, Italy
    • ,
  • Borghina Vanacore

      Affiliations

    • Ceinge-Advanced Biotechnologies and Department of Biochemistry and Medical Biotechnologies, University of Naples “Federico II”, Naples, Italy
    • ,
  • Sergio Manieri

      Affiliations

    • Cystic Fibrosis Center, Pediatric Division, San Carlo Hospital, Potenza, I-85100, Italy
    • ,
  • Maria Pia Mirauda

      Affiliations

    • Cystic Fibrosis Center, Pediatric Division, San Carlo Hospital, Potenza, I-85100, Italy
    • ,
  • Amelia Scavone

      Affiliations

    • Cystic Fibrosis Center, Pediatric Division, San Carlo Hospital, Potenza, I-85100, Italy
    • ,
  • Maria Vittoria Schiavo

      Affiliations

    • Cystic Fibrosis Center, Pediatric Division, San Carlo Hospital, Potenza, I-85100, Italy
    • ,
  • Giuseppe Castaldo

      Affiliations

    • Ceinge-Advanced Biotechnologies and Department of Biochemistry and Medical Biotechnologies, University of Naples “Federico II”, Naples, Italy
    • Faculty of Sciences, University of Molise, Aesernia, Italy
    • ,
  • Francesco Salvatore

      Affiliations

    • Ceinge-Advanced Biotechnologies and Department of Biochemistry and Medical Biotechnologies, University of Naples “Federico II”, Naples, Italy

Received 5 December 2003; accepted 18 January 2004.

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.

Keywords:  Cystic fibrosis, Metabolic alkalosis, Pancreatic sufficiency

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☆ Grants from Ministero della Salute (L. 362/99), MIUR (FIRB 2001 and PRIN 2002), Università del Molise and Italian CF Research Foundation are gratefully acknowledged.

PII: S1569-1993(04)00049-9

doi:10.1016/j.jcf.2004.01.007

Journal of Cystic Fibrosis
Volume 3, Issue 2 , Pages 135-136, June 2004

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