Literature DB >> 15463898

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

Donatello Salvatore1, Rossella Tomaiuolo, Rosaria Abate, Borghina Vanacore, Sergio Manieri, Maria Pia Mirauda, Amelia Scavone, Maria Vittoria Schiavo, Giuseppe Castaldo, Francesco Salvatore.   

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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Year:  2004        PMID： 15463898     DOI： 10.1016/j.jcf.2004.01.007

Source DB:  PubMed          Journal:  J Cyst Fibros        ISSN： 1569-1993            Impact factor:   5.482


  4 in total

Review 1.  Electrolyte abnormalities in cystic fibrosis: systematic review of the literature.

Authors:  Elisabetta Scurati-Manzoni; Emilio F Fossali; Carlo Agostoni; Enrica Riva; Giacomo D Simonetti; Maura Zanolari-Calderari; Mario G Bianchetti; Sebastiano A G Lava
Journal:  Pediatr Nephrol       Date:  2013-12-11       Impact factor: 3.714

2.  Recurrent episodes of unexplained hypoelectrolytaemia of a rare cause in a young Saudi girl.

Authors:  Mohsen Suliaman Al-Atawi; Sulaiman Abdullah Al-Queflie; Hamad Abdullah Al-Sadoon
Journal:  BMJ Case Rep       Date:  2015-10-22

3.  Pseudo-Bartter syndrome in children with cystic fibrosis.

Authors:  Mojgan Faraji-Goodarzi
Journal:  Clin Case Rep       Date:  2019-04-29

4.  Mutation spectrum of Egyptian children with cystic fibrosis.

Authors:  Walaa Aboulkasem Shahin; Dina Ahmed Mehaney; Mona Mostafa El-Falaki
Journal:  Springerplus       Date:  2016-05-20
  4 in total

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