| Pseudo-Bartter's syndrome revealing cystic fibrosis in an infant caused by 3849+1G>A and 4382delA compound heterozygosity. | |
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MedLine Citation:
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PMID: 21449922 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 102mmol/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's syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa. Conclusion: The genotype 3849+1G>A/4382delA found in our patient is described for the first time in the literature. It explains the lung involvement with the dehydration and electrolytes disturbances. The role of the mutation in exon 24 in cases of CF with PB syndrome remains to be determined. |
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Authors:
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El-Rifai Nahida; Hourani Mohammed; Lalau Guy |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-30 |
Journal Detail:
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Title: Acta paediatrica (Oslo, Norway : 1992) Volume: - ISSN: 1651-2227 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-31 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Acta Paediatrica © 2011 Foundation Acta Paediatrica. |
Affiliation:
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Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon. Biology and Pathology Center, Biochemistry and Molecular Biology Pole, CHRU Lille, France. |
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