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Zhang, MH; Knisely, AS; Wang, NL; Gong, JY; Wang, JS.
Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.
BMC Gastroenterol. 2016; 16(1):92-92 (- Case Report) [OPEN ACCESS]
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Autor/innen der Med Uni Graz:
Knisely Alexander
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Abstract:
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. 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. This report expands the epidemiology of FSD and demonstrates idiosyncrasy in response to oral carbamazepine and/or ursodeoxycholic acid in FSD.
Find related publications in this database (using NLM MeSH Indexing)
Afibrinogenemia - drug therapy
Afibrinogenemia - genetics
Asian Continental Ancestry Group - genetics
Carbamazepine - therapeutic use
Child, Preschool -
Fibrinogens, Abnormal - genetics
Genes, Dominant -
Humans -
Male -
Mutation -
Treatment Outcome -
Ursodeoxycholic Acid - therapeutic use

Find related publications in this database (Keywords)
Fibrinogen storage
Endoplasmic reticulum storage
FGG
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