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

Paola Francalanci; Filippo M Santorelli; Ilaria Talini; Renata Boldrini; Rita Devito; Francesca Diomedi Camassei; Giuseppe Maggiore; Francesco Callea

doi:10.1016/j.jpeds.2005.10.007

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.

Authors

Paola Francalanci¹, Filippo M Santorelli, Ilaria Talini, Renata Boldrini, Rita Devito, Francesca Diomedi Camassei, Giuseppe Maggiore, Francesco Callea

Affiliation

¹ Department of Pathology, Children's Hospital Bambino Gesù, Rome, Italy.

PMID: 16615976
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