Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.

Introduction: In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the Northeast Region of Brazil.

Methods: Retrospective cross-sectional study.