| Literature DB >> 31976143 |
Etna Masip1, Ester Donat1, Begoña Polo1, Silvestre Oltra2, Pedro Ortega3, Carmen Ribes-Koninckx1.
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. © Thieme Medical Publishers.Entities:
Keywords: congenital chloride diarrhea; cystic fibrosis; metabolic alkalosis
Year: 2019 PMID: 31976143 PMCID: PMC6976311 DOI: 10.1055/s-0039-1695059
Source DB: PubMed Journal: J Pediatr Genet ISSN: 2146-460X