Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation

Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in CFTR

Coma Pseudo - Bartter syndrome

Pseudo-Bartter's syndrome in cystic fibrosis.

Seven cases of cystic fibrosis complicated by chronic salt depletion and failure to thrive were studied. After replacement of the salt deficit, the metabolic abnormalities resolved, and weight gain was rapid. This should be considered as a differential diagnosis in children who have been diagnosed as having cystic fibrosis, but who fail to thrive despite standard treatment.

Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease which is characterized by intractable diarrhea of infancy, failure to thrive, high fecal chloride, hypochloremia, hypokalemia, hyponatremia and metabolic alkalosis. In this case report, we present the first female and the second official case of CCD in Iran. A 15-month-old girl referred to our hospital due to failure to th...

Pseudo-Bartter as an initial presentation of cystic fibrosis. A case report and review of the literature.

Cystic fibrosis (CF) is an autosomal recessive condition caused by the mutation of the cystic fibrosis transmembrane regulator gene (CFTR) on chromosome 7. Although it primarily affects the respiratory and gastrointestinal tracts, it can also involve other organs. It may also cause electrolyte and acid base disturbances, rarely the mode of presentation. This can result in difficulty in making a...