Introduction. Infants with cystic fibrosis may fail to thrive despite
recommended caloric intake because of electrolyte disurbances caused by salt
depletion resulting in hypochloremic metabolic alkalosis or pseudo-Bartter's
syndrome. In most patients reported symptoms began in infancy, but it may be
an initial presentation of disease in a previously healthy adolescent. Case
report. A 15-year-old boy was admitted for evaluation of recurrent episodes
of malaise associated with dehydration and acute renal insufficiency.
Laboratory analysis showed hypochloremic metabolic alkalosis with
hyponatremia and hypokalemia. On admission the boy was obese, with body
weight of 95.5 kg (> P97), height 174 cm (> P75), and body mass index of 31.2
kg/m2 (> P95). Physical examination was inconclusive. Blood pressure holter
monitoring proved significant systolic hypertension. Routine urinalysis,
protein and electrolyte levels in urine were normal. Plasma renin and
aldosteron were normal. Sweat chloride concentration was 63 mmol/L. Genetic
testing confirmed the diagnosis of cystic fibrosis. Conclusion. To our
knowledge, this is the first reported case of atypical presentation of cystic
fibrosis in an adolescent presented with pseudo-Bartter's syndrome and signs
of obesity and hypertension. We suggest that every patient with hypochloremic
metabolic alkalosis should be evaluated for cystic fibrosis.
Atypical presentation of cystic fibrosis: Obese adolescent with hypertension and pseudo-Bartter’s syndrome
