English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

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.    Case presentation  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.    Conclusion  This report expands the epidemiology of FSD and demonstrates idiosyncrasy in response to oral carbamazepine and/or ursodeoxycholic acid in FSD.    Electronic supplementary material  The online version of this article (doi:10.1186/s12876-016-0507-3) contains supplementary material, which is available to authorized users.

Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid