Clinical and Genetic Risk Factors for Cystic Fibrosis-Related Liver Disease in Egyptian Cf Children: A Single-Center Experience

Abstract

Background: Cystic fibrosis (CF) is an autosomal recessive disease affecting multiple organ systems, including the liver, leading to cystic fibrosis-related liver disease (CFLD). It was noted that CFLD in Egyptian children with CF is more common than in non-Egyptian people with CF (pwCF). The present study aimed to determine the incidence of CFLD and the potential risk factors for developing CFLD in Egyptian children. The correlation between CFLD and the various genotypes prevalent in Egyptian CF children and the comparison of CFLD in Egyptian and non-Egyptian CF patients will be done. Methods: The current cross-sectional study included 50 CF cases from Ain Sham University’s Pediatric Pulmonology Clinic in Children‘s Hospital, Cairo, Egypt. The sweat chloride test and genetic studies were done at the time of diagnosis. All patients’ caregivers provided informed consent. Additionally, all subjects underwent detailed history taking, laboratory investigations, clinical assessment, and pelviabdominal ultrasound for evaluation of hepatic involvement. Results: Male sex, severe genetic mutation (class I and II), long duration, and early onset of the disease were independent risk factors for CFLD development. In addition, pancreatic insufficiency, as well as meconium ileus history, were predictors of CFLD. Diabetes mellitus and severe lung disease were proven to significantly elevate the risk of CFLD development. Conclusion: CFLD is not uncommon in Egyptian CF patients as one-third of the patients were found to have liver affection. CF patients with multiple risk factors are at increased risk of developing liver disease.