Pseudo-Bartter syndrome as the first manifestation of cystic fibrosis
Authors:
V. Urbanová; A. Feketeová; Ľ. Podracká
Authors‘ workplace:
Klinika detí a dorastu LF UPJŠ a DFN, Košice
Published in:
Čes-slov Pediat 2015; 70 (1): 29-32.
Category:
Case Report
Overview
Pseudo-Bartter syndrome is a rare but well known complication of cystic fibrosis characterized by hypochloremic hypokaliemic metabolic alkalosis. The authors describe an interesting case of a 3-month infant with negative newborn screening presented by severe acid-base and electrolytes disturbances, which led us to suspicion of the diagnosis of cystic fibrosis. Molecular-genetic testing identified both mutations of the CFTR gene (F508del/Glu831X). Remarkable is, that our patient is the first gypsy child with cystic fibrosis in Slovakia. In the searching for the cause of hypochloremic alkalosis, it is necessary to exclude cystic fibrosis also in infants with negative newborn screening.
Key words:
hypochloremic metabolic alkalosis, cystic fibrosis, newborn screening
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2015 Issue 1
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