Humans ; Protein C Deficiency ; Mutation

No abstract available.
Plasma ; Protein C Deficiency* ; Protein C* ; Purpura Fulminans* ; Purpura* ; Warfarin

No abstract available.
Protein C Deficiency* ; Protein C* ; Purpura Fulminans* ; Purpura*

OBJECTIVETo analyze genetic mutations and explore its molecular pathogenesis for an hereditary protein C (PC) deficiency pedigree.

METHODSThe pedigree has included 15 individuals from 4 generations. Plasma levels of PC activity (PC:A), PC antigen (PC:Ag) and other coagulant parameters were determined for members of the family. The 9 exons and intron-exon boundaries of protein C gene (PROC) of the proband were amplified with PCR and analyzed with direct sequencing. Detected mutations were confirmed with reverse sequencing. Corresponding PCR fragments from the family members were also directly sequenced.

RESULTSPlasma PC:A and PC:Ag for the proband was 26% and 18.60%, respectively, both being lower than normal references. Seven members from the pedigree also had lower PC:A, six had lower PC:Ag. A compound heterozygous missense mutation, including a T to G transition at position 6128 of exon 7, which results in Phe139Val, and a G to C transition at position 8478 in exon 9, which results in Asp255His, were identified in the proband. The paternal grandma, father and two aunts were heterozygous for g.6128 T to G, whilst the mother, the second uncle, sister and son were heterozygous for g.8478 G to C. There were lower PC:A in family members with g.8478 G to C.

CONCLUSIONThe proband had inherited two independent mutations of the PROC gene including g.6128 T to G in exon 7 and g.8478 G to C in exon 9 from her father and mother, respectively. The resulting compound heterozygous mutation has caused a serious hereditary protein C deficiency.

Humans ; Infant, Newborn ; Male ; Protein C ; metabolism ; Protein C Deficiency

Pulmonary embolism is caused by various conditions including genetic and acquired factors, and among them, C and S protein deficiency are known as a cause of pulmonary embolism although their incidences are low. Apical hypertrophic cardiomyopathy is known as a subtype of hypertrophic cardiomyopathies which was reported to be a cause of diastolic heart failure or thromboembolism by activating coagulation system, and this may have an effect on developing pulmonary embolism. We report this since we experienced a case of both C and S protein deficiencies in a patient with apical hypertrophic cardiomyopathy who was diagnosed as pulmonary embolism and has been examined to find the cause of the disease.
Cardiomyopathy, Hypertrophic ; Heart Failure, Diastolic ; Humans ; Incidence ; Protein C ; Protein C Deficiency ; Protein Deficiency ; Protein S Deficiency ; Pulmonary Embolism ; Thromboembolism

Spontaneous renal artery dissection without aortic dissection in normotensive patients is rarely reported. Spontaneous renal artery dissection is also an uncommon cause of renal infarction that occurs, though rarely, in patients with hypercoagulable states such as protein C and S deficiency. We report here a case of spontaneous renal artery dissection and renal infarction associated with protein C and S deficiency.
Humans ; Infarction ; Protein C ; Protein C Deficiency ; Protein S Deficiency ; Renal Artery

A pulmonary thromboembolism usually results from a serious complication of deep venous thrombosis (DVT). However, several prothrombotic genetic risk factors are known to predispose a patient to thrombotic events, with manifestation at a young age. Protein C and S deficiencies are known to increase the risk of venous thrombosis and pulmonary thromboembolism. We report a case of a young patient with protein C and S deficiencies suffering from a massive pulmonary thromboembolism.
Humans ; Protein C Deficiency* ; Protein C* ; Protein S Deficiency ; Pulmonary Embolism ; Risk Factors ; Venous Thrombosis

In Behcet's disease(BD), there is a marked increase in vascular complication. Venous thrombosis is a major feature of the disease, although arterial thrombosis is rarely described. In Behcet's disease, thrombosis occurs in 20 to 30% of patients. We present two cases of Behcet's disease admitted to our hospital whose chief complaint was progressive increases in swelling and pain in their legs. In the first case, routine coagulation tests and sero-immunological tests were within normal limits, however, protein C and S activity were significantly decreased in the patient. So these findings suggest that auto-immune acquired protein S deficiency may be involved in the pathogenesis of thrombotic events in BD.
Humans ; Leg ; Protein C ; Protein S Deficiency ; Thrombosis ; Venous Thrombosis*

The occurrence of acute ischemic stroke in childhood is rare. The etiology of childhood ischemic stroke is different from that of an adult, and coagulation abnormalities are suspected to be related. Protein S is a vitamin-K-dependent plasma protein that inhibits the coagulation system by serving as a cofactor for activated protein C, and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. We reported the case of a child who presented with right side weakness and who was diagnosed as having a cerebral infarction associated with protein S deficiency as the cause of stroke.
Adult ; Cerebral Infarction ; Child ; Humans ; Plasma ; Protein C ; Protein C Deficiency ; Protein S Deficiency* ; Protein S* ; Stroke*