Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation

J Pediatr. 2006 Mar;148(3):396-8. doi: 10.1016/j.jpeds.2005.10.007.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Afibrinogenemia / genetics*
  • Alanine Transaminase / blood
  • Aspartate Aminotransferases / blood
  • Child
  • Consanguinity
  • Fibrinogen / genetics*
  • Fibrinogen / metabolism*
  • Humans
  • Liver / metabolism*
  • Male
  • Mutation*
  • Partial Thromboplastin Time
  • Prothrombin Time
  • gamma-Glutamyltransferase / blood

Substances

  • Fibrinogen
  • gamma-Glutamyltransferase
  • Aspartate Aminotransferases
  • Alanine Transaminase