Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report
Pytrus, T.; Iwańczak, B.; Smigiel, R.; Ryzko, Józef.; Socha, P.; Iwańczak, F.
Polski Merkuriusz Lekarski Organ Polskiego Towarzystwa Lekarskiego 27(161): 388-392
2009
ISSN/ISBN: 1426-9686 PMID: 19999802 Document Number: 634792
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. 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.