Published online Oct 26, 2020. doi: 10.12998/wjcc.v8.i20.4838
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
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.
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.
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.