Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.
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.
Francalanci
Paola
P
Department of Pathology, Children's Hospital Bambino Gesù, Rome, Italy.
Santorelli
Filippo M
FM
Talini
Ilaria
I
Boldrini
Renata
R
Devito
Rita
R
Camassei
Francesca Diomedi
FD
Maggiore
Giuseppe
G
Callea
Francesco
F
D000347:Afibrinogenemia / Q000235:genetics*; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D002648:Child; D003241:Consanguinity; D005340:Fibrinogen / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008099:Liver / Q000378:metabolism*; D008297:Male; D009154:Mutation; D010314:Partial Thromboplastin Time; D011517:Prothrombin Time; D005723:gamma-Glutamyltransferase / Q000097:blood
D005340:Fibrinogen; D005723:gamma-Glutamyltransferase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase