A comprehensive overview of the cystic fibrosis on the island of Sao Miguel (Azores, Portugal).

ABSTRACT:

Background

Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations.

Methods

We performed a retrospective cross-sectional study of CF patients from the island of São Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation. The clinical course of patients was analyzed as a whole and according to their genotype.

Results

We identified 14 CF patients within a 23-year period, corresponding to a cumulative incidence of 1:3012 births, being three of them born from consanguineous unions. Gene

SUBMITTER: Rosa J 

PROVIDER: S-EPMC6942372 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature