Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation.
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.
Salvatore
Donatello
D
Cystic Fibrosis Center, Pediatric Division, San Carlo Hospital, Potenza, I-85100, Italy. saverdon@tiscali.it
Tomaiuolo
Rossella
R
Abate
Rosaria
R
Vanacore
Borghina
B
Manieri
Sergio
S
Mirauda
Maria Pia
MP
Scavone
Amelia
A
Schiavo
Maria Vittoria
MV
Castaldo
Giuseppe
G
Salvatore
Francesco
F
D000471:Alkalosis / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator