LONG-TERM FVII SUBSTITUTION IN A PRETERM INFANT WITH SEVERE GASTROINTESTINAL BLEEDING AND FVII DEFICIENCY DUE TO A HOMOZYGOUS DONOR SPLICE MUTATION IVS4+1G→A.

Autor:	Hennewig, U., Eisert, S., Wulff, K., Herrmann, F. H., Schneider, D. T., Göbel, U.
Předmět:	HUMAN abnormalities PREMATURE infants GENETIC disorders HEMOPHILIA BLOOD diseases HEMORRHAGE BLOOD coagulation disorders
Zdroj:	Pediatric Hematology & Oncology; Mar2006, Vol. 23 Issue 2, p129-133, 5p, 2 Graphs
Abstrakt:	Congenital FVII deficiency is a rare bleeding disorder. Clinical complications are similar to those seen in hemophilia A, and an increased incidence of intracerebral hemorrhage related to birth trauma has been reported. The authors report on an infant who presented at the second day of life with melaena and hematemesis caused by congenital FVII deficiency with minimal activity of 4%. A homozygous mutation IVS4+G?A, formerly described in 2 siblings, who died of brain hemorrhage within the first month of life, was identified. Severe bleeding events were prevented with prophylactic treatment. Early identification of the underlying mutation helps to assess the risk of hemorrhage and prevent severe bleeding by prophylactic FVII therapy. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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