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.