title: Screening for liver disease in cystic fibrosis: analysis of clinical and genetic risk factors for its development.
abstract: 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 DeltaF508 mutation in the LD group (77.8%) vs. the no LD group (66.2%). All patients with LD had severe mutations: DeltaF508, G542X, N1303K, CFTRdel.21Kb, 1811+1G-->C, and Y1092X.
authors.affiliation: Department of Pediatrics, University Clinical Centre, Macedonian Academy of Science and Arts, Skopje, Macedonia.
authors.forename: Stojka
authors.initials: S
authors.lastname: Fustik
authors.forename: Meri
authors.initials: M
authors.lastname: Trajkovska
authors.forename: Tanja
authors.initials: T
authors.lastname: Jakovska
authors.forename: Lidija
authors.initials: L
authors.lastname: Spirevska
authors.forename: Tanja
authors.initials: T
authors.lastname: Josifovska
authors.forename: Svetlana
authors.initials: S
authors.lastname: Koceva
mesh_terms: D000293:Adolescent; D002648:Child; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D008297:Male; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors
chemical_list: C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator