Der autosomal rezessive Protein C-Mangel wird durch Mutationen im PROC-Gen hervorgerufen. Im Unterschied zur dominanten Form sind hier die Mutationen nicht so schwerwiegend, so dass zwei mutierte Allele notwendig sind, um eine Thrombophilie auszulösen. Heterozygote Anlageträger dieser Mutationen zeigen eine etwa 50% erniedrigte Protein C-Aktivität.
Klinisch chemisch werden drei Typen des Protein S-Mangels unterschieden: Typ 1: Es liegt sowohl eine Mangel an nachweisbarem Protein und seiner Aktivität vor. Typ 2: Während die Proteinkonzentration normal ist, zeigt die Aktivität des reifen Proteins eine deutliche Verminderung.[Error: Macro 'ref' doesn't exist]
Bei der Plasmabestimmung sollte man beachten, dass diese Protein Vitamin K-abhängig gebildet wird, also eine längere MArcumar-Pause vor der Abnahme erforderlich ist.
1. |
Bertina RM et al. (1984) The use of a functional and immunologic assay for plasma protein C in the study of the heterogeneity of congenital protein C deficiency. |
2. |
Müller FM et al. (1996) Purpura fulminans in severe congenital protein C deficiency: monitoring of treatment with protein C concentrate. |
3. |
Seligsohn U et al. (1984) Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. |
4. |
Branson HE et al. (1983) Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant. |
5. |
Soria J et al. (1985) Severe protein C deficiency in congenital thrombotic disease--description of an immunoenzymological assay for protein C determination. |
6. |
None (1985) Protein C in thromboembolic disease. |
7. |
Yuen P et al. (1986) Purpura fulminans in a Chinese boy with congenital protein C deficiency. |
8. |
Peters C et al. (1988) Homozygous protein C deficiency: observations on the nature of the molecular abnormality and the effectiveness of warfarin therapy. |
9. |
Gruppo RA et al. (1988) Protein C deficiency resulting from possible double heterozygosity and its response to danazol. |
10. |
Tuddenham EG et al. (1989) Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months. |
12. |
Melissari E et al. (1989) Congenital severe protein C deficiency in adults. |
13. |
Tripodi A et al. (1990) Asymptomatic homozygous protein C deficiency. |
14. |
Fong CY et al. (2010) Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. |
15. |
Dreyfus M et al. (1991) Treatment of homozygous protein C deficiency and neonatal purpura fulminans with a purified protein C concentrate. |
16. |
HJORT PF et al. (1964) PURPURA FULMINANS. REPORT OF A CASE SUCCESSFULLY TREATED WITH HEPARIN AND HYDROCORTISONE. REVIEW OF 50 CASES FROM THE LITERATURE. |
17. |
Angelis M et al. (2001) En bloc heterotopic auxiliary liver and bilateral renal transplant in a patient with homozygous protein C deficiency. |
18. |
Millar DS et al. (2000) Molecular genetic analysis of severe protein C deficiency. |
19. |
OMIM.ORG article Omim 612304 |