title: Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.
abstract: We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.
authors.affiliation: Department of Pathology, Children's Hospital Bambino Gesù, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Francalanci
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Ilaria
authors.initials: I
authors.lastname: Talini
authors.forename: Renata
authors.initials: R
authors.lastname: Boldrini
authors.forename: Rita
authors.initials: R
authors.lastname: Devito
authors.forename: Francesca Diomedi
authors.initials: FD
authors.lastname: Camassei
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Maggiore
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
mesh_terms: D000347:Afibrinogenemia / Q000235:genetics*; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D002648:Child; D003241:Consanguinity; D005340:Fibrinogen / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008099:Liver / Q000378:metabolism*; D008297:Male; D009154:Mutation; D010314:Partial Thromboplastin Time; D011517:Prothrombin Time; D005723:gamma-Glutamyltransferase / Q000097:blood
chemical_list: D005340:Fibrinogen; D005723:gamma-Glutamyltransferase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase