Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Afibrinogenämie

Die kongenitale Hypo- bzw. Afibrinogenämie ist durch eine autosomal rezessive Erkrankung, die durch vermindertes oder gänzlich fehlendes Fibrinogen gekennzeichnet ist. Es kommt dabei zu einer deutlichen Blutungsneigung. Ursächlich kommen Mutationen im FGA- und FGB-Gen in Betracht.

Gliederung

Erbliche Blutungsübel
Afibrinogenämie
FGA
FGB
FGG
Dysfibrinogenemie
Factor XIII A-Mangel
Factor XIII B-Mangel
Plasminogen-Aktivator-Inhibitor-Mangel
Störungen des Vitamin K-Stoffwechsels

Referenzen:

1.

Neerman-Arbez M et al. (2000) Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.

[^]
2.

Lefebvre P et al. (2004) Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).

[^]
3.

Neerman-Arbez M et al. (1999) Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia.

[^]
4.

Haverkate F et al. (1995) Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen.

[^]
5.

Neerman-Arbez M et al. (2001) Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.

[^]
6.

LAWSON HA et al. (1953) Congenital afibrinogenemia; report of a case.

[^]
7.

BRONNIMANN R et al. (1954) [Congenital afibrinogenemia; report of a case with multiple bone cysts and formation of a specific antibody (anti fibrinogen) following blood transfusion].

[^]
8.

LEMOINE P et al. (1963) [Congenital afibrinemia in 2 brothers with bone and hepatic lesions].

[^]
9.

BOMMER W et al. (1963) [Congenital afibrinogenaemia. I].

[^]
10.

WERDER E et al. (1963) [CONGENITAL AFIBRINOGENEMIA].

[^]
11.

Barbu T et al. (1972) Coagulation studies in a case of severe congenital hypofibrinogenemia.

[^]
12.

Girolami A et al. (1971) Congenital afibrinogenemia. A case report with some considerations on the hereditary transmission of this disorder.

[^]
13.

Egbring R et al. (1971) [Diagnostic and therapeutic problems in congenital afibrinogenemia].

[^]
14.

Elseed FA et al. (1984) Congenital afibrinogenaemia in a Saudi family: a case report and family study.

[^]
15.

Fried K et al. (1980) Congenital afibrinogenemia in 10 offspring of uncle-niece marriages.

[^]
16.

Montgomery R et al. (1977) Afibrinogenemia with intracerebral hematoma. Report of a successfully treated case.

[^]