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.
Cystic Fibrosis Center, Pediatric Division, San Carlo Hospital, Potenza, I-85100, Italy. saverdon@tiscali.it
Donatello
D
Salvatore
Rossella
R
Tomaiuolo
Rosaria
R
Abate
Borghina
B
Vanacore
Sergio
S
Manieri
Maria Pia
MP
Mirauda
Amelia
A
Scavone
Maria Vittoria
MV
Schiavo
Giuseppe
G
Castaldo
Francesco
F
Salvatore
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