Cystic Fibrosis Associated Liver Disease and Bronchiectasis in Puberty. Case Report and Literature Review

Abstract

Abstract Cystic fibrosis (CF) represents a multisystemic condition, due to the transmembrane conductance regulatory protein (CFTR gene), involving both gastrointestinal tract and lungs. The prevalence of CF associated liver disease is related with increased life expectancy and it is rare in childhood or puberty. Liver disease (LD) is often preceded by complications associated with pulmonary damage. We present a case of a 13 year- old girl, known with cystic fibrosis since the age of 4 months, diagnosed with cholecyst hypoplasia and cholestasis, severe malnutrition progressive extension of bronchiectasis, recurrent respiratory infections in childhood, and, later, in puberty, liver disease with third stage fibrosis (F3) revealed by Fibroscan. Hepatobiliary damage is a late consequence, which is precisely why not performing a liver biopsy, especially in infants and young children, can be justified. We highlight the value of Fibroscan, a non-invasive imaging technique capable to reveal liver fibrosis and to stage it.