Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autosomal rezessiver Protein C-Mangel

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.

Einteilung

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.[1]

Diagnosestellung

Bei der Plasmabestimmung sollte man beachten, dass diese Protein Vitamin K-abhängig gebildet wird, also eine längere MArcumar-Pause vor der Abnahme erforderlich ist.

Gliederung

Venöse thromboembolische Erkrankungen
Autosomal dominanter Protein C-Mangel
Autosomal dominanter Protein S-Mangel
Autosomal rezessiver Protein C-Mangel
PROC
Autosomal rezessiver Protein S-Mangel
F2
F5
HABP2
MTHFR
PAI-Transkriptionsmodulator
Protein Z-Mangel
SERPINC1
THBD
VKORC1

Referenzen:

1.

Millar DS et al. (2000) Molecular genetic analysis of severe protein C deficiency.

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2.

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.

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3.

Angelis M et al. (2001) En bloc heterotopic auxiliary liver and bilateral renal transplant in a patient with homozygous protein C deficiency.

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4.

HJORT PF et al. (1964) PURPURA FULMINANS. REPORT OF A CASE SUCCESSFULLY TREATED WITH HEPARIN AND HYDROCORTISONE. REVIEW OF 50 CASES FROM THE LITERATURE.

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5.

Dreyfus M et al. (1991) Treatment of homozygous protein C deficiency and neonatal purpura fulminans with a purified protein C concentrate.

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6.

Fong CY et al. (2010) Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C.

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7.

Tripodi A et al. (1990) Asymptomatic homozygous protein C deficiency.

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8.

Melissari E et al. (1989) Congenital severe protein C deficiency in adults.

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9.

Marlar RA et al. (1989) Diagnosis and treatment of homozygous protein C deficiency. Report of the Working Party on Homozygous Protein C Deficiency of the Subcommittee on Protein C and Protein S, International Committee on Thrombosis and Haemostasis.

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10.

Tuddenham EG et al. (1989) Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months.

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11.

Gruppo RA et al. (1988) Protein C deficiency resulting from possible double heterozygosity and its response to danazol.

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12.

Peters C et al. (1988) Homozygous protein C deficiency: observations on the nature of the molecular abnormality and the effectiveness of warfarin therapy.

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13.

Yuen P et al. (1986) Purpura fulminans in a Chinese boy with congenital protein C deficiency.

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14.

Marlar RA et al. (1985) Protein C in thromboembolic disease.

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15.

Soria J et al. (1985) Severe protein C deficiency in congenital thrombotic disease--description of an immunoenzymological assay for protein C determination.

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16.

Branson HE et al. (1983) Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant.

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17.

Seligsohn U et al. (1984) Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn.

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18.

Müller FM et al. (1996) Purpura fulminans in severe congenital protein C deficiency: monitoring of treatment with protein C concentrate.

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