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Articles

Title: Familial hypobetalipoproteinemia as a cause of liver steatosis in children

Author:
Dariusz M. Lebensztejn, Anna Romanowska, Elżbieta Skiba, Danuta Kowalczuk, Eugeniusz Tarasów, Maria E. Sobaniec-Łotowska, Maciej Kaczmarski
Language:
PL
Journal:
Contemporary Pediatrics, Gastroenterology, Hepatology and Child Feeding
Year:
2008
Volume:
10
Number:
3
Start page:
122
Final page:
124
ISSN:
1507-5532
Keywords:
familial hypobetalipoproteinemia, FHBL, fatty liver, children
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Familial hypobetalipoproteinemia (FHBL) is a rare genetically heterogeneous disorder characterizing abnormally low serum levels of total cholesterol, LDL (low-density lipoprotein) and apolipoprotein B. Patients carrying heterozygous mutations in APOB gene are usually asymptomatic except liver pathology (fatty liver, gallstone disease). We report a history of 2 boys (aged 14 and 16 years) with FHBL and fatty liver.