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

2006; Elsevier BV; Volume: 148; Issue: 3 Linguagem: Inglês

10.1016/j.jpeds.2005.10.007

1097-6833

Paola Francalanci, Filippo M. Santorelli, Ilaria Talini, Renata Boldrini, Rita De Vito, Francesca Diomedi‐Camassei, Giuseppe Maggiore, Francesco Callea,

Erythrocyte Function and Pathophysiology

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.