title: Pediatric gallstone disease in familial hypobetalipoproteinemia.
abstract: Familial hypobetalipoproteinemia (FHBL) is an monogenic co-dominant disorder characterized by reduced plasma levels of cholesterol, low density lipoproteins (LDL) and apolipoprotein B (apoB) often associated with non-alcoholic fatty liver disease (NAFLD). It has been suggested that FHBL might predispose to gallstone disease (GD). We report a hypocholesterolemic 10 year old girl with obstructive jaundice due to cholesterol stones in gallbladder and common bile duct which required cholecistectomy. The analysis of patient's plasma lipoproteins revealed a marked reduction of LDL and apoB, a lipid profile consistent with the clinical diagnosis of heterozygous FHBL. The same profile was found in her mother who had severe NAFLD. The analysis of apoB gene, the main candidate gene in FHBL, revealed that the patient and her mother were heterozygotes for a novel nonsense mutation (Y1220X) predicted to cause the formation of a short truncated apoB (apoB-26.87) not secreted into the plasma. The presence of cholesterol stones could result from increased biliary cholesterol secretion as a compensatory mechanism for the reduced capacity of the liver to export cholesterol incorporated into apoB-containing lipoproteins. FHBL should be considered as a possible predisposing factor for cholesterol gallstones in children (190).
authors.affiliation: Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, 41100 Modena, Italy.
authors.forename: Sandra
authors.initials: S
authors.lastname: Lancellotti
authors.forename: Marco
authors.initials: M
authors.lastname: Zaffanello
authors.forename: Enza
authors.initials: E
authors.lastname: Di Leo
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Costa
authors.forename: Amedeo
authors.initials: A
authors.lastname: Lonardo
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarugi
mesh_terms: D000225:Adenine; D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D005260:Female; D042882:Gallstones / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000150:complications* / Q000235:genetics*; D008969:Molecular Sequence Data; D013941:Thymine; D014443:Tyrosine
chemical_list: D001055:Apolipoproteins B; D018389:Codon, Nonsense; D014443:Tyrosine; D000225:Adenine; D013941:Thymine