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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
Faktor XII-Mangel
Faktor XIII A-Mangel
Faktor XIII B-Mangel
Plasminogen-Aktivator-Inhibitor-Mangel
Störungen des Vitamin K-Stoffwechsels

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

None (1963) [CONGENITAL AFIBRINOGENEMIA].

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9.

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

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10.

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

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11.

None (1954) [Congenital afibrinogenemia; report of a case with multiple bone cysts and formation of a specific antibody (anti fibrinogen) following blood transfusion].

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12.

None (1953) Congenital afibrinogenemia; report of a case.

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13.

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.

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14.

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

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15.

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

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16.

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

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17.

OMIM.ORG article

Omim 202400 external link
Update: 14. August 2020
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