[Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report].
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.
Pytrus
Tomasz
T
II Chair and Department of Pediatry, Gastroenterology and Nutrition, Medical University of Wroclaw, Poland. tomasz.pytrus@orange.pl
Iwańczak
Barbara
B
Smigiel
Robert
R
Ryzko
Józef
J
Socha
Piotr
P
Iwańczak
Franciszek
F
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
C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator