Introduction
CF is a systemic disease affecting multi-organs. As a result of progress in the treatment of CF, life expectancy has been steadily increasing, leading to increased recognition of other organ involvement, including CFLD.1 CFLD is triggered by CFTR gene mutation, which is expressed in cholangiocytes and regulates the exchange of transmembrane chlorides, resulting in a modification in the alkalinity as well as hydration of the bile composition.2 Even though CF often impacts the airways, nearly 10-15 percent of pwCF have CFLD to some degree.3 In young adults as well as children, the imaging (ultrasonography), clinical or biochemical CFLD prevalence ranges from 2% to 37%.4
CFLD is now estimated to be the third most common cause of mortality among CF cases, following organ transplantation complications as well as lung disease. CFLD clinical picture may vary, from mild asymptomatic hypertransaminasemia to cirrhosis.
The pathomechanism of CFLD is related to alternations in bile flow as well as retention and composition of toxins and hydrophobic bile acids damaging the biliary epithelium. The clinical progression of this impairment is gradual but progressive .5
In infants, CFLD can be in the form of cholestasis which can be associated with parenteral nutrition and meconium ileus.6 Although CFLD early diagnosis is critical since clinical symptoms manifest only after hepatobiliary system damage has already been in progress.7 Nevertheless, diagnosis is difficult owing to the usual asymptomatic presentation as well as the lack of specific diagnostic tools.8
It has been speculated that the incidence of CFLD in Egyptian CF cases is more elevated compared to the Western World, causes leading to this difference have not been clear. This study aimed to identify the incidence of CFLD, a predictive factor in Egyptian CF children and compare this to other pwCF globally.