Abstract
IntroductionPseudo-Bartter syndrome (PBS) is a rare manifestation of Cystic fibrosis (CF) and can often be the initial presentation in these patients, however, due to significantly overlapping symptoms it is often misdiagnosed as simple dehydration or Bartter syndrome. The objective of our study was to highlight the key features of PBS and electrolyte imbalance in CF patients helping in early and prompt diagnosis. MethodWe performed a retrospective study from January 2015 to December 2019 at the Aga Khan University Hospital (AKUH), Pakistan. CF patients aged from 1–18 years, admitted at AKUH were enrolled and their laboratory data and individual charts were reviewed. Patients were categorized into three groups based on their serum electrolyte profile and their clinical findings were compared. ResultWe enrolled 72 CF patients, out of which 42 (58%) were categorized into the Normal Electrolyte (NE) group, 19 (26%) into the Electrolyte Imbalance (EI) group and 11 (15%) in the PBS group. Out of 11 cases, 6 (54.54%) patients in PBS group presented with features consistent with PBS leading to CF diagnosis labeled as “early presenters”. Mean age of patients in the PBS group was 3.81± 0.86 years and their age at diagnosis were significantly lower as compared to other groups. Gastrointestinal disturbances including diarrhea, vomiting and constipation were more common in the EI and PBS groups. Polyuria was most common in the PBS (72%) group. Length of hospital stay showed no significant difference. ConclusionPseudo-Bartter syndrome can be a presenting feature of cystic fibrosis. Electrolyte imbalance should be anticipated in hospitalized CF children and adolescent.
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