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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bhakoo ON, Kumar R, Walia BNS. Mucoviscidosis of lungs. Report of a case. Indian J Pediatr. 1968;35:183–5.
Mehta S, Wadhwa UN, Mehta SK, Chhuttani PN. Fibrocystic disease of pancreas in India. Indian Pediatr. 1968;5:185–91.
Cystic fibrosis mutation database. [Internet]. 2010. Available from: http://www.genet.sickkids.on.ca/Home.html.
Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med. 2002;347(6):401–7. https://doi.org/10.1056/NEJMoa011899.
Ashavaid TF, Raghavan R, Dhairyawan P, Bhawalkar S. Cystic fibrosis in India: a systematic review. J Assoc Phys India. 2012;60:39–41.
Dalugama C, Pathirage M, Kularatne SAM. Bartter syndrome-like phenotype in a patient with diabetes: a case report. J Med Case Rep. 2018;12:222. https://doi.org/10.1186/s13256-018-1752-6.
Vilotijević-Dautović G, Stojanović V. Pseudo-Bartter’s syndrome in patients with cystic fibrosis: a case series and review of the literature. Srp Arh Celok Lek. 2015;143(11–12):748–51. https://doi.org/10.2298/sarh1512748v.
Hizal MG, Cıkı K, Esref S, Birbilen A, Tugcu GD, Emiralioğlu N, Yalcin E, Ersoz DD, Ozcelik U, Kiper N. Clinical features of pseudo-Bartter syndrome in cystic fibrosis. Eur Respir J. 2017;50:1343.
Acknowledgements
To patient and his parents.
Funding
Nil.
Author information
Authors and Affiliations
Contributions
Concept and design of study or acquisition of data or analysis and interpretation of data-SS and TJ. Drafting the article or revising it critically for important intellectual content: AKG, MRS and SK and final approval of the version to be published: AKG.
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Ethics Approval
Ethical approval was not obtained for the publication of this case report as this does not involve the sharing of the personal details of the patient.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Shah, S., Jondhale, S., Sahoo, M.R. et al. A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report. Ind J Clin Biochem 38, 550–552 (2023). https://doi.org/10.1007/s12291-021-01010-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12291-021-01010-y