Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia.

Background: Internationally, Cystic fibrosis-associated liver disease (CFLD) is considered the third leading cause of death, following lung disease and transplantation complications.

Aims: To identify the prevalence of CFLD in cystic fibrosis (CF) patients.

Methodology: A retrospective chart review for all patients with CF liver disease from a tertiary care center.

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

Introduction: Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.

Objectives: To determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia.

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Background: Cystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles.