TY - JOUR
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
UR - http://www.scopus.com/inward/record.url?scp=3342875109&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=3342875109&partnerID=8YFLogxK
U2 - 10.1016/j.jcf.2004.01.007
DO - 10.1016/j.jcf.2004.01.007
M3 - Article
C2 - 15463898
AN - SCOPUS:3342875109
VL - 3
SP - 135
EP - 136
JO - Journal of Cystic Fibrosis
JF - Journal of Cystic Fibrosis
SN - 1569-1993
IS - 2
ER -