A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report

Seema Shah; Sunil Jondhale; Manas Ranjan Sahoo; Tushar Jagzape; Swasti Keshri; Anil Kumar Goel

doi:10.1007/s12291-021-01010-y

A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report

Indian J Clin Biochem. 2023 Oct;38(4):550-552. doi: 10.1007/s12291-021-01010-y. Epub 2021 Oct 7.

Authors

Seema Shah¹, Sunil Jondhale², Manas Ranjan Sahoo², Tushar Jagzape², Swasti Keshri², Anil Kumar Goel²

Affiliations

¹ Department of Biochemistry, All India Institute of Medical Sciences, Raipur, India.
² Department of Pediatrics, All India Institute of Medical Sciences, Raipur, India.

Abstract

Pseudo-Bartter's (PB) syndrome is characterized by hypokalemic metabolic alkalosis and failure to thrive which constitutes a rare but typical presentation of cystic fibrosis (CF) in children. The most common mutation of CF is F508del, due to loss of 3 base pairs, causing deletion of phenylalanine, at position 508. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with urosepsis and primo-colonization with Escherichia coli suggesting the role of epigenetic factors. The heterozygous state for Phe508del mutation in Exon 11 combination with Glu92Ala in Exon 4 resulted in epigenetic effect on atypical phenotype as PBS, a novel mutation identified in our case.

Keywords: Cystic fibrosis; Novel mutation; Pseudo Bartter syndrome.

Publication types

Case Reports