title: [Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report].
abstract: Cystic fibrosis is the most common, multiorgan inherited autosomal recessive disorder. The gene associated with this disease encodes the CF transmembrane conductance regulator (CFTR). The aim of this article is a presentation of 5-years-old girl with cystic fibrosis and associated liver disease as the only manifestation of CF.
  
  
  METHODS
  We described the case of a 5.5-years-old girl with ascites and peripheral edema without of the symptoms. Laboratory tests revealed hepatic cell damage with cholestasis, extreme lipid abnormalities and hypocholesterolemia. Based on positive sweat test (CI: 122 mEq/l) and genetic analysis (homozygote deltaF508) the diagnosis of cystic fibrosis was confirmed. Patient was successfully treated with nutritional treatment and pancreatic enzymes.
authors.affiliation: II Chair and Department of Pediatry, Gastroenterology and Nutrition, Medical University of Wroclaw, Poland. tomasz.pytrus@orange.pl
authors.forename: Tomasz
authors.initials: T
authors.lastname: Pytrus
authors.forename: Barbara
authors.initials: B
authors.lastname: Iwańczak
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
authors.forename: Józef
authors.initials: J
authors.lastname: Ryzko
authors.forename: Piotr
authors.initials: P
authors.lastname: Socha
authors.forename: Franciszek
authors.initials: F
authors.lastname: Iwańczak
mesh_terms: D001201:Ascites / Q000209:etiology; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000032:analysis; D005260:Female; D006801:Humans; D052439:Lipid Metabolism Disorders / Q000209:etiology*; D008107:Liver Diseases / Q000209:etiology; D013542:Sweat / Q000737:chemistry
chemical_list: C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator