We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Pseudo-Bartter's syndrome revealing cystic fibrosis in an infant caused by 3849 + 1G>A and 4382delA compound heterozygosity.
- Authors
Nahida, El-Rifai; Mohammed, Hourani; Guy, Lalau
- Abstract
Pseudo-Bartter's (PB) syndrome characterized by hypokalemic metabolic alkalosis and persistent failure to thrive constitutes a rare typical presentation of cystic fibrosis (CF) with prevalence of 16.8%. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa. Sweat chloride test was 102 mmol/L. DNA analysis identified 2 mutations 3849 + 1G>A (intron 19) and 4382delA (exon 24) present in heterozygous status. To the best of our knowledge, our case is the first reported case in the literature of CF manifested by PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa.
- Publication
Acta paediatrica (Oslo, Norway : 1992), 2011, Vol 100, Issue 11, pe234
- ISSN
1651-2227
- Publication type
Journal Article
- DOI
10.1111/j.1651-2227.2011.02294.x