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

doi:10.1016/j.jcf.2004.01.007

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	135-136
Number of pages	2
Journal	Journal of Cystic Fibrosis
Volume	3
Issue number	2
DOIs	https://doi.org/10.1016/j.jcf.2004.01.007
Publication status	Published - Jun 2004

Keywords

Cystic fibrosis
Metabolic alkalosis
Pancreatic sufficiency

ASJC Scopus subject areas

Pulmonary and Respiratory Medicine

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10.1016/j.jcf.2004.01.007

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title = "Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation",

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",

author = "Donatello Salvatore and Rossella Tomaiuolo and Rosaria Abate and Borghina Vanacore and Sergio Manieri and Mirauda, {Maria Pia} and Amelia Scavone and Schiavo, {Maria Vittoria} and Giuseppe Castaldo and Francesco Salvatore",

year = "2004",

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language = "English",

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T1 - Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation

AU - Salvatore, Donatello

AU - Tomaiuolo, Rossella

AU - Abate, Rosaria

AU - Vanacore, Borghina

AU - Manieri, Sergio

AU - Mirauda, Maria Pia

AU - Scavone, Amelia

AU - Schiavo, Maria Vittoria

AU - Castaldo, Giuseppe

AU - Salvatore, Francesco

PY - 2004/6

Y1 - 2004/6

N2 - 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.

AB - 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.

KW - Cystic fibrosis

KW - Metabolic alkalosis

KW - Pancreatic sufficiency

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JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

SN - 1569-1993

IS - 2

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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