Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K.
An Egyptian infant with the common CFTR mutation N1303K in exon 21 developed alkalosis, electrolyte disturbance, and pancreas insufficiency. We emphasized the need to consider the possibility of cystic fibrosis (CF) in the Arab world. The frequency of N1303K mutation in the Middle East and its distribution are both reviewed.
Wahab
A Abdul
AA
Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar. atiqa@qatar.net.qa
Janahi
I A
IA
Marafia
M M
MM
D003550:Cystic Fibrosis / Q000235:genetics*; D004534:Egypt; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation