Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Author Reply
Book Review
Brief Communication
Case Report
Case Series
Clinical Case Report
Clinicopathological Conference
Commentary
Corrigendum
Current Issue
Editorial
Editorial – World Kidney Day 2016
Editorial Commentary
Erratum
Foreward
Guideline
Guidelines
Image in Nephrology
Images in Nephrology
In-depth Review
Letter to Editor
Letter to the Editor
Letters to Editor
Literature Review
Notice of Retraction
Obituary
Original Article
Perspective
Research Letter
Retraction Notice
Review
Review Article
Short Review
Special Article
Special Feature
Special Feature - World Kidney Day
Systematic Review
Technical Note
Varia
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Author Reply
Book Review
Brief Communication
Case Report
Case Series
Clinical Case Report
Clinicopathological Conference
Commentary
Corrigendum
Current Issue
Editorial
Editorial – World Kidney Day 2016
Editorial Commentary
Erratum
Foreward
Guideline
Guidelines
Image in Nephrology
Images in Nephrology
In-depth Review
Letter to Editor
Letter to the Editor
Letters to Editor
Literature Review
Notice of Retraction
Obituary
Original Article
Perspective
Research Letter
Retraction Notice
Review
Review Article
Short Review
Special Article
Special Feature
Special Feature - World Kidney Day
Systematic Review
Technical Note
Varia
View/Download PDF

Translate this page into:

Letter to the Editor
ARTICLE IN PRESS
doi:
10.25259/ijn_53_23

Hidden in Plain Sight—A Rare Presentation of Cystic Fibrosis with Pseudo-Bartter Syndrome

Department of Pediatrics, Seth GS Medical College, Mumbai, Maharashtra, India
Corresponding author: Ratnapriya Chowdhry, Department of Pediatrics, Seth GS Medical College, Mumbai, Maharashtra, India. E-mail: rchowdhry2794@gmail.com
Licence
This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.

How to cite this article: Chowdhry R, Vaswani RK, David J. Hidden in Plain Sight—A Rare Presentation of Cystic Fibrosis with Pseudo-Bartter Syndrome. Indian J Nephrol. doi: 10.25259/ijn_53_23

Dear Editor,

A three-month-old girl presented with persistent vomiting, failure to thrive and hearing loss. She was static at the birth weight of 3 kg. Investigations revealed hyponatremia (122 meq/L), hypokalemia (2.6 meq/L), hypochloremia (88 meq/L), hypocalcemia (6.8 mg%), and metabolic alkalosis (PH 7.6). Urine electrolytes showed low urine sodium and chloride (10.4 mmol/L and 47 mmol/L, respectively). Brainstem evoked response audiometry (BERA) confirmed bilateral severe hearing loss. Based on the above laboratory findings with sensorineural hearing loss, a diagnosis of Type 4A antenatal Bartter syndrome was made. Indomethacin was planned. A clinical exome test uncovered a homozygous mutation in the CFTR gene on exon 19, with the pathogenic variant of c3107C > T, consistent with the diagnosis of CF. The missense mutation has caused substitution of isoleucine for threonine at codon 1036. This was previously noted in a study done on Iranian patients and was described as a novel mutation.1 She is being treated with supplements of salt and calcium, and cochlear implant is planned.

The incidence of pseudo bartter syndrome (PBS) in CF ranges from 12% - 16%.2 Persistent vomiting is a distinctive warning sign for early identification. The mechanism is activation of renin angiotensin aldosterone system due to excessive loss of sodium chloride in sweat. This is in contrast to Bartter syndrome, where there is defective sodium reabsorption from the thick ascending limb of Henle.3 PBS results in low levels of urine sodium and chloride, whereas bartter syndrome has increased levels.3 The management involves dehydration correction.

PBS usually presents in the neonatal age group.4 Often, it presents before the typical manifestations of CF set in. In areas with low newborn screening, this metabolic feature coupled with failure to thrive can give a mammoth clue to physicians towards cystic fibrosis. This case report highlights the diagnostic dilemma that cystic fibrosis can be if its hallmark features have not yet presented.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Conflicts of interest

There are no conflicts of interest.

References

  1. , , , , . Analysis of the CFTR gene in iranian cystic fibrosis patients: Identification of eight novel mutations. J Cyst Fibros. 2008;7:102-9.
    [CrossRef] [PubMed] [Google Scholar]
  2. , . Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features. Saudi J Kidney Dis Transpl. 2013;24:292-6.
    [CrossRef] [PubMed] [Google Scholar]
  3. , , . Cystic fibrosis presenting as pseudo-bartter syndrome: An important diagnosis that is missed! Indian J Pediatr. 2020;87:726-32.
    [CrossRef] [PubMed] [Google Scholar]
  4. , . Episodic seasonal pseudo-bartter syndrome in cystic fibrosis. Paediatr Respir Rev. 2014;15:19-21.
    [CrossRef] [PubMed] [Google Scholar]

Fulltext Views
118

PDF downloads
96
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections