Clinical and laboratory profile of children with Cystic Fibrosis: Experience of a tertiary care center in Pakistan
DOI:
https://doi.org/10.12669/pjms.333.12188Keywords:
Cystic Fibrosis, Delta F508, Genetic mutations analysis, Sweat chloride test.Abstract
Objective: To determine the clinical presentation, diagnostic investigations and laboratory workup done in admitted children with cystic fibrosis at Aga Khan University Hospital Karachi, Pakistan.
Methods: This is a three years retrospective study from January 2013 to December 2015 conducted at The Aga Khan University Hospital Karachi Pakistan, enrolling admitted patient from birth to 15 years of either gender, diagnosed with CF on the basis of clinical features and positive sweat chloride test. Different clinical presentations were noted including initial presentations. Sweat chloride values more than 60mmol/L were labeled as positive and consistent with diagnosis of CF. Available Delta F-508 mutation analyses were noted.





