J Pediatr Genet 2020; 09(01): 044-047
DOI: 10.1055/s-0039-1695059
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea

1  Pediatric Gastrohepatology Unit, University Hospital La Fe, Valencia, Spain
,
Ester Donat
1  Pediatric Gastrohepatology Unit, University Hospital La Fe, Valencia, Spain
,
Begoña Polo
1  Pediatric Gastrohepatology Unit, University Hospital La Fe, Valencia, Spain
,
Silvestre Oltra
2  Genetic Unit, University Hospital La Fe, Valencia, Spain
,
Pedro Ortega
3  Pediatric Nephrology Unit, University Hospital La Fe, Valencia, Spain
,
Carmen Ribes-Koninckx
1  Pediatric Gastrohepatology Unit, University Hospital La Fe, Valencia, Spain
› Author Affiliations
Further Information

Publication History

01 March 2019

16 July 2019

Publication Date:
02 September 2019 (online)

Abstract

Metabolic alkalosis is uncommon in infancy. Cystic fibrosis (CF) patients can develop dehydration because of sweat salt or gastrointestinal losses; with the correct salt supplementation, the electrolyte alterations can be reversed. Here, we present a CF patient with recurrent metabolic alkalosis, initially oriented as pseudo-Bartter's syndrome. However, despite accurate treatment, patient needed daily intravenous fluids to maintain homeostasis. An extended study was made, including a urine study that could rule out Bartter's diagnosis. Finally, after a complementary test that included electrolyte stools study and genetic analysis, congenital chloride diarrhea could be diagnosed.