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

摘要

Cystic fibrosis (CF) is an autosomal recessive condition caused by the mutation of the cystic fibrosis trans-membrane 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 an early diagnosis in the absence of other characteristic clinical features.