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Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea
Author(s) -
Etna Masip,
Ester Donat Aliaga,
Begoña Polo,
Silvestre Oltra,
Pedro Ortega,
Carmen RibesKoninckx
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1695059
Subject(s) - metabolic alkalosis , cystic fibrosis , medicine , diarrhea , alkalosis , bartter syndrome , gastroenterology , hypernatremia , dehydration , homeostasis , endocrinology , acidosis , sodium , chemistry , hypokalemia , biochemistry , organic chemistry
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.

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