Pseudo-bartter Syndrome as the Initial Presentation of Cystic Fibrosis in Infants: A Series of Three cases and Review of Literature
Journal Title: Journal of Clinical and Diagnostic Research - Year 2018, Vol 12, Issue 9
Abstract
ABSTRACT Cystic Fibrosis (CF) is predominantly a disease of Caucasians, but it is increasingly being recognised in India. The typical presentations of CF are recurrent pneumonia and malabsorption. Atypical presentations are also increasingly being reported from India due to the differences in genotype and environmental factors. Pseudo-Bartter syndrome (PBS) is one of these atypical presentations which can present at any time after the diagnosis of CF but its presentation as an initial manifestation is rare. We hereby report three infants who presented with dehydration without obvious external losses. The investigations revealed metabolic alkalosis with hypochloraemia. A stepwise approach towards metabolic alkalosis revealed possibility of cystic fibrosis which was confirmed by sweat chloride test. All infants completely recovered with initial fluid and electrolyte therapy, following which supportive therapy for CF was started and subsequently they were discharged from the hospital.
Authors and Affiliations
Prawin Kumar, Neeraj Gupta, Daisy Khera, Kuldeep Singhal
Keywords
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- EP ID EP524422
- DOI 10.7860/JCDR/2018/36189.11965
- Views 78
- Downloads 0
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