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Erschienen in:
01.01.2012 | Clinical Quiz
An infant with alternating metabolic acidosis and alkalosis: answer
Erschienen in: Pediatric Nephrology | Ausgabe 1/2012
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1.
The sweat chloride test was performed on two separate occasions, which showed chloride levels of 72 and 110 mEq/l. These confirmed the diagnosis of cystic fibrosis (CF), but genetic tests failed to find common mutations of the cystic fibrosis transmembrane regulator (CFTR) gene (delta-F508, W1282X, N1303K, G542X, and G551D).
2.
A hypochloremic metabolic alkalosis with low urinary chloride levels on second admission raised the suspicion of CF. It was consistent with the clinical picture of failure to thrive, respiratory infections, and gastrointestinal symptoms.
3.
Acute respiratory failure in the first hospitalization could have been coincidental, a result of dehydration or aminoglycoside use, or it may have been related to the diagnosis of CF.