title: Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child.
abstract: OBJECTIVE
  Fibrinogen gene mutations can rarely result in hepatic fibrinogen storage disease (HFSD). Herein, we report on the first Turkish family carrying the mutation p.Arg375Trp (fibrinogen Aguadilla) in the γ-chain of the fibrinogen (FGG) gene.
  
  
  METHODS
  Clinical, laboratory and histopathological findings of the patient were documented. Molecular study of fibrinogen gene was performed in the patient and her family members.
  
  
  RESULTS
  The proband was 5 years old girl presenting with advanced liver fibrosis of unknown origin. The child had very low plasma levels of fibrinogen and hypobetalipoproteinemia. Immunomorphologic and electron microscopic studies showed selective and exclusive accumulation of fibrinogen within the endoplasmic reticulum in liver biopsy of the patient. Patient, mother, two sisters and one brother carried p.Arg375Trp mutation (fibrinogen Aguadilla) in FGG gene. The patient was treated with ursodeoxycholic acid and carbamazepine. After 3 months, carbamazepine was suspended upon family decision and unresponsiveness of carbamazepine.
  
  
  CONCLUSIONS
  HFSD is characterized by hypofibrinogenemia and accumulation of abnormal fibrinogen within hepatocytes. In addition, hypofibrinogenemia is associated with hypobetalipoproteinemia in Aguadilla mutation.
authors.affiliation: Department of Pediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.
authors.forename: Sinan
authors.initials: S
authors.lastname: Sari
authors.affiliation: Department of Pathology, Gazi University Faculty of Medicine, Ankara, Turkey.
authors.forename: Guldal
authors.initials: G
authors.lastname: Yilmaz
authors.affiliation: Department of Pathology, Gazi University Faculty of Medicine, Ankara, Turkey.
authors.forename: Ipek I
authors.initials: II
authors.lastname: Gonul
authors.affiliation: Department of Pediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgic
authors.affiliation: Department of Pathology, Gazi University Faculty of Medicine, Ankara, Turkey.
authors.forename: Gulen
authors.initials: G
authors.lastname: Akyol
authors.affiliation: Department of Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Giovannoni
authors.affiliation: Department of Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Francalanci
authors.affiliation: Department of Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
mesh_terms: D000347:Afibrinogenemia / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D002220:Carbamazepine / Q000008:administration & dosage*; D002675:Child, Preschool; D002756:Cholagogues and Choleretics / Q000008:administration & dosage; D065701:Cytochrome P-450 CYP3A Inducers / Q000008:administration & dosage; D005260:Female; D005340:Fibrinogen / Q000032:analysis / Q000235:genetics; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D020125:Mutation, Missense; D016896:Treatment Outcome; D014580:Ursodeoxycholic Acid / Q000008:administration & dosage*
chemical_list: D002756:Cholagogues and Choleretics; D065701:Cytochrome P-450 CYP3A Inducers; C027539:fibrinopeptides gamma; D002220:Carbamazepine; D014580:Ursodeoxycholic Acid; D005340:Fibrinogen
keywords: child; cirrhosis; fibrinogen Aguadilla; fibrinogen storage disease; hypobetalipoproteinemia