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Dehydrated patient without clinically evident cause: A case report
- Source :
- World Journal of Clinical Cases
- Publication Year :
- 2020
- Publisher :
- Baishideng Publishing Group Inc, 2020.
-
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.
- Subjects :
- medicine.medical_specialty
Metabolic alkalosis
Gastroenterology
Cystic fibrosis
Severe dehydration
Internal medicine
Case report
medicine
Children
Newborn screening
biology
Dehydration
Pseudo-Bartter syndrome
business.industry
General Medicine
medicine.disease
Cystic fibrosis transmembrane conductance regulator
Heat exposure
Diarrhea
Vomiting
biology.protein
Differential diagnosis
medicine.symptom
business
Subjects
Details
- Language :
- English
- ISSN :
- 23078960
- Volume :
- 8
- Issue :
- 20
- Database :
- OpenAIRE
- Journal :
- World Journal of Clinical Cases
- Accession number :
- edsair.doi.dedup.....aa922401a64fffc3759dddacc3c05834