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 sus...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℃–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:G126 D and F508 del 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.展开更多
文摘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℃–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:G126 D and F508 del 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.
