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Pediatria pre prax 6/2012
Pseudo-Bartter‘s syndrome in an infant with false negative screening for cystic fibrosis
A case of severe metabolic alkalosis with hypoelectrolyemia developing in a 2-month old infant is presented. Diagnosis of cystic fibrosis with atypical manifestation of was hampered by the false negative result of neonatal screening for the disease. This rare clinical case points to the need for diagnostic vigilance independently of the result of neonatal screening for cystic fibrosis.
Keywords: cystic fibrosis, screening, Pseudo-Bartter‘s syndrome.
