Abstract:

Pseudo-Bartter syndrome (PBS) is a clinical condition characterized by hypokalemic, hypochloremic metabolic alkalosis. PBS is discriminated from the Bartter syndrome with normal urine electrolyte levels. Persistent hyponatremia, hypokalemia, metabolic alkalosis and hypocalcemia was detected in a two and a half month-old girl patient brought with complaints of weight loss.and restlessness. At the end of the researches the findings were evaluated to be consistent with Pseudo-Bartter syndrome. In consideration of cystic fibrosis (CF) which is one of the common causes of this condition, two times sweat test was performed which yielded positive results. After the demonstration of G542X/G85E combined heterozygous mutations in the gene analysis the patient were followed with the diagnosis of CF. Pseudo-Bartter’s syndrome related CF, may occur as the first sign of the disease in early infancy.

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