Article
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K.
Journal of tropical pediatrics - 1 Aug 2004
Wahab A Abdul, Janahi I A, Marafia M M
Abstract excerpt
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.
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