The Turkish Journal of Pediatrics 2008 , Vol 50 , Num 6
Screening for liver disease in cystic fibrosis: analysis of clinical and genetic risk factors for its development
1Departments of Pediatrics, University Clinical Centre, Skopje, Macedonia
2Departments of Gastroenterology and Hepatology, University Clinical Centre, Skopje, Macedonia
3Institute of Nuclear Medicine, Faculty of Medicine, Macedonian Academy of Science and Arts, Skopje, Macedonia
4Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Science and Arts, Skopje, Macedonia
Fustik S, Trajkovska M, Jakovska T, Spirevska L, Josifovska T, Koceva S. Screening for liver disease in cystic fibrosis: analysis of clinical and genetic risk factors for its development. Turk J Pediatr 2008; 50: 526-532.

This study analyzes the prevalence and the role of possible clinical and genetic risk factors for the development of cystic fibrosis (CF)-related liver disease (LD) in a Macedonian CF population. All patients older than three years (n=52) were screened for LD. LD was defined by the finding of hepatomegaly and/or splenomegaly, significant and persistent increase of at least two serum liver enzyme levels, suggestive ultrasonographic abnormalities (score >4), and morphologic or functional scintigraphic abnormalities. According to predefined criteria, 18 patients (34.6%) were classified as having LD, three of them with portal hypertension. A male predominance was found in the group with LD (72%). There was no significant difference in the pulmonary function, nutritional status, and in the prevalence of meconium ileus. Genetic analysis showed higher frequency of ∆F508 mutation in the LD group (77.8%) vs. the no LD group (66.2%). All patients with LD had severe mutations: ∆F508, G542X, N1303K, CFTRdel.21Kb, 1811+1G→C, and Y1092X. Keywords : cystic fibrosis, liver disease, screening, ultrasonography, hepatobiliary scintigraphy, genotype

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