Palladino F, Fedele MC, Casertano M, Liguori L, Esposito T, Guarino S, Miraglia del Giudice E, Marzuillo P. Dehydrated patient without clinically evident cause: A case report. World J Clin Cases 2020; 8(20): 4838-4843 [PMID: 33195651 DOI: 10.12998/wjcc.v8.i20.4838]
Corresponding Author of This Article
Pierluigi Marzuillo, MD, PhD, Assistant Professor, Doctor, Postdoc, Postdoctoral Fellow, Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania “Luigi Vanvitelli”, Via Luigi De Crecchio 2, Naples 80138, Italy. pierluigi.marzuillo@gmail.com
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Oct 26, 2020; 8(20): 4838-4843 Published online Oct 26, 2020. doi: 10.12998/wjcc.v8.i20.4838
Dehydrated patient without clinically evident cause: A case report
Federica Palladino, Maria Cristina Fedele, Marianna Casertano, Laura Liguori, Tiziana Esposito, Stefano Guarino, Emanuele Miraglia del Giudice, Pierluigi Marzuillo
Federica Palladino, Maria Cristina Fedele, Marianna Casertano, Laura Liguori, Tiziana Esposito, Stefano Guarino, Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania “Luigi Vanvitelli”, Naples 80138, Italy
Author contributions: Marzuillo P, Palladino F, Guarino S, and Fedele MC equally contributed to the patient’s management and drafting and revising the manuscript including literature search, figures, and references; Casertano M, Liguori L, Miraglia del Giudice E and Esposito T critically reviewed and revised the manuscript and added important intellectual content; all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Informed consent statement: Informed written consent was obtained from the patient for publication of this reporting.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Pierluigi Marzuillo, MD, PhD, Assistant Professor, Doctor, Postdoc, Postdoctoral Fellow, Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania “Luigi Vanvitelli”, Via Luigi De Crecchio 2, Naples 80138, Italy. pierluigi.marzuillo@gmail.com
Received: April 10, 2020 Peer-review started: April 10, 2020 First decision: September 14, 2020 Revised: September 14, 2020 Accepted: September 26, 2020 Article in press: September 26, 2020 Published online: October 26, 2020 Processing time: 198 Days and 19.5 Hours
Abstract
BACKGROUND
Patients affected by cystic fibrosis can present with metabolic alkalosis such as Bartter’s syndrome. In this case report we want to underline this differential diagnosis and we aimed focusing on the suspect of cystic fibrosis, also in case of a negative newborn screening.
CASE SUMMARY
In a hot August –with a mean environmental temperature of 36 °C– an 8-mo-old female patient presented with severe dehydration complicated by hypokalemic metabolic alkalosis, in absence of fever, diarrhea and vomiting. Differential diagnosis between cystic fibrosis and tubulopathies causing metabolic alkalosis (Bartter’s Syndrome) was considered. We started intravenous rehydration with subsequent improvement of clinical conditions and serum electrolytes normalization. We diagnosed a mild form of cystic fibrosis (heterozygous mutations: G126D and F508del in the cystic fibrosis transmembrane conductance regulator gene). The trigger factor of this condition had been heat exposure.
CONCLUSION
When facing a patient with hypokalemic metabolic alkalosis, cystic fibrosis presenting with Pseudo-Bartter’s syndrome should be considered in the differential diagnosis, even if the newborn screening was negative.
Core Tip: We report a case of cystic fibrosis presenting with hypokalemic metabolic alkalosis caused by dehydration after heat exposure. We diagnosed a mild form of cystic fibrosis. In particular we wanted focusing on differential diagnosis between cystic fibrosis and Bartter’s Syndrome. We want to highlight that atypical forms of cystic fibrosis could escape to neonatal screening and prompt diagnosis is important for prognosis.
