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

Author:

Masip Etna1ORCID,Donat Ester1,Polo Begoña1,Oltra Silvestre2,Ortega Pedro3,Ribes-Koninckx Carmen1

Affiliation:

1. Pediatric Gastrohepatology Unit, University Hospital La Fe, Valencia, Spain

2. Genetic Unit, University Hospital La Fe, Valencia, Spain

3. Pediatric Nephrology Unit, University Hospital La Fe, Valencia, Spain

Abstract

AbstractMetabolic 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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

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