title: Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.
abstract: BACKGROUND
  Fibrinogen storage disease (FSD) is a rare autosomal-dominant disorder caused by mutation in FGG, encoding the fibrinogen gamma chain. Here we report the first Han Chinese patient with FSD, caused by de novo fibrinogen Aguadilla mutation, and his response to pharmacologic management.
  
  
  METHODS
  Epistaxis and persistent clinical-biochemistry test-result abnormalities prompted liver biopsy in a boy, with molecular study of FGG in him and his parents. He was treated with the autophagy enhancer carbamazepine, reportedly effective in FSD, and with ursodeoxycholic acid thereafter. Inclusion bodies in hepatocellular cytoplasm stained immune-histochemically for fibrinogen. Selective analysis of FGG found the heterozygous mutation c.1201C > T (p.Arg401Trp), absent in both parents. Over more than one year's follow-up, transaminase and gamma-glutamyl transpeptidase activities have lessened but not normalized.
  
  
  CONCLUSIONS
  This report expands the epidemiology of FSD and demonstrates idiosyncrasy in response to oral carbamazepine and/or ursodeoxycholic acid in FSD.
authors: Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, 201508, China.
authors: Mei-Hong
authors: MH
authors: Zhang
authors: Institute of Liver Studies, King's College Hospital, Denmark Hill, London, SE5 9RS, UK.|Present address: Institute of Pathology, Medical University Graz, Auenbruggerplatz 25, 8036, Graz, Austria.
authors: A S
authors: AS
authors: Knisely
authors: Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, 201508, China.
authors: Neng-Li
authors: NL
authors: Wang
authors: Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, 201508, China.
authors: Jing-Yu
authors: JY
authors: Gong
authors: Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, 201508, China. jshwang@shmu.edu.cn.|The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, 201102, China. jshwang@shmu.edu.cn.|Department of Pediatrics, Shanghai Medical College, Fudan University, Shanghai, 201102, China. jshwang@shmu.edu.cn.
authors: Jian-She
authors: JS
authors: Wang
mesh_terms: D000347:Afibrinogenemia / Q000188:drug therapy* / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002220:Carbamazepine / Q000627:therapeutic use*; D002675:Child, Preschool; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D016896:Treatment Outcome; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use*
chemical_list: D015241:Fibrinogens, Abnormal; C527521:fibrinogen gamma'; D002220:Carbamazepine; D014580:Ursodeoxycholic Acid
keywords: Endoplasmic reticulum storage; FGG; Fibrinogen storage