The old and the new in prekallikrein deficiency: Historical context and a family from argentina with PK deficiency due to a new mutation (Arg541Gln) in exon 14 associated with a common polymorphysm (Asn124Ser) in exon 5

Seminars in Thrombosis and Hemostasis

Volumn 40, Issue 5, 2014, Pages 592-599

  Girolami, Antonio ^a   Vidal, Josè ^b   Salagh, Marcela ^b   Gervan, Nora ^b   Parody, Maria ^b   Peroni, Edoardo ^a   Sambado, Luisa ^a   Guglielmone, Hugo ^b  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

Author keywords

blood coagulation; contact phase; hypertension; prekallikrein deficiency

Indexed keywords

ARGININE; GLUTAMINE; PREKALLIKREIN;

ADULT; ARGENTINA; ARTICLE; BLEEDING; BLOOD CLOTTING FACTOR DEFICIENCY; BLOOD PRESSURE; BLOOD VESSEL PERMEABILITY; CASE REPORT; ESSENTIAL HYPERTENSION; EXON; FAMILY HISTORY; GENETIC POLYMORPHISM; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MIDDLE AGED; MUTATION; PREKALLIKREIN DEFICIENCY; PRIORITY JOURNAL; THROMBOSIS; VASODILATATION; AMINO ACID SUBSTITUTION; BLOOD; BLOOD CLOTTING DISORDER; BLOOD CLOTTING TEST; DEFICIENCY; FEMALE; GENETICS; HISTORY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; AMINO ACID SUBSTITUTION; ARGENTINA; BLOOD COAGULATION DISORDERS; BLOOD COAGULATION TESTS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PREKALLIKREIN;

EID: 84905185953     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0034-1384767     Document Type: Article

References (37)

1. Hathaway W. E., Belhasen L. P., Hathaway H. S. Evidence for a new plasma thromboplastin factor. I. Case report, coagulation studies and physicochemical properties. Blood: 1965; 26 5 521 532
2. Girolami A., Scarparo P., Candeo N., Lombardi A. M. Congenital prekallikrein deficiency. Expert Rev Hematol: 2010; 3 6 685 695
3. Ratnoff O. D., Colopy J. E. A familial hemorrhagic trait associated with a deficiency of a clot-promoting fraction of plasma. J Clin Invest: 1955; 34 4 602 613
4. Colman R. W. Contact Activation (Kallikrein-Kinin) pathway: Involving inflammatory, fibrinolytic, anticoagulant physiologic and pathophisiologic activities. In: Colman R. W., Marder V. J., Clowes A. W., George J. N., Goldhaber S. Z., eds. Hemostasis and Thrombosis, 5th ed. Philadelphia, PA Lippincott Williams & Wilkins: 2006; 107 130
5. Hattersley P. G., Hayse D. Fletcher factor deficiency: a report of three unrelated cases. Br J Haematol: 1970; 18 4 411 416
6. Goodnough L. T., Saito H., Ratnoff O. D. Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases. Medicine (Baltimore): 1983; 62 4 248 255 (Pubitemid 13037004)
7. Wuillemin W. A., Furlan M., von Felten A., Lämmle B. Functional characterization of a variant prekallikrein (PK Zürich). Thromb Haemost: 1993; 70 3 427 432 (Pubitemid 23254670)
8. Bouma B. N., Kerbiriou D. M., Baker J., Griffin J. H. Characterization of a variant prekallikrein, prekallikrein Long Beach, from a family with mixed cross-reacting material-positive and cross-reacting material-negative prekallikrein deficiency. J Clin Invest: 1986; 78 1 170 176 (Pubitemid 16068196)
9. Lombardi A. M., Sartori M. T., Cabrio L., Fadin M., Zanon E., Girolami A. Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). Thromb Haemost: 2003; 90 6 1040 1045 (Pubitemid 38004421)
10. Shigekiyo T., Fujino O., Kanagawa Y., Matsumoto T. Prekallikrein (PK) Tokushima: PK deficiency caused by a Gly401->Glu mutation. J Thromb Haemost: 2003; 1 6 1314 1316
11. François D., Trigui N., Leterreux G., et al. Severe prekallikrein deficiencies due to homozygous C529Y mutations. Blood Coagul Fibrinolysis: 2007; 18 3 283 286 (Pubitemid 46597403)
12. Wynne Jones D., Russell G., Allford S. L., et al. Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation. Br J Haematol: 2004; 127 2 220 223 (Pubitemid 39371817)
13. Katsuda I., Maruyama F., Ezaki K., Sawamura T., Ichihara Y. A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. Eur J Haematol: 2007; 79 1 59 68 (Pubitemid 47000619)
14. Maak B., Kochhan L., Heuchel P., Jenderny J. Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene [in German]. Hamostaseologie: 2009; 29 2 187 189
15. Nakao T., Yamane T., Katagami T., et al. Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation. Blood Coagul Fibrinolysis: 2011; 22 4 337 339
16. Girolami A., Marun S., Vettore S., et al. A large family from Argentina with prekallikrein deficiency due to a compound heterozygosis (T insertion in intron 7 and Asp558Glu in exon 15): prekallikrein Cordoba. Am J Hematol: 2010; 85 5 363 366
17. Dasanu C. A., Alexandrescu D. T. A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage. Am J Med Sci: 2009; 338 5 429 430
18. Nagaya S., Morishita E., Takami A., et al. An elderly case of congenital prekallikrein deficiency [in Japanease]. Nippon Ronen Igakkai Zasshi: 2009; 46 4 348 351
19. Girolami A., Molaro G., Lazzarin M., Scarpa R., Brunetti A. A new congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): study of a large kindred. Br J Haematol: 1970; 19 2 179 192
20. Chung D. W., Fujikawa K., McMullen B. A., Davie E. W. Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats. Biochemistry: 1986; 25 9 2410 2417
21. McMullen B. A., Fujikawa K., Davie E. W. Location of the disulfide bonds in human plasma prekallikrein: the presence of four novel apple domains in the amino-terminal portion of the molecule. Biochemistry: 1991; 30 8 2050 2056
22. Yu H., Anderson P. J., Freedman B. I., Rich S. S., Bowden D. W. Genomic structure of the human plasma prekallikrein gene, identification of allelic variants, and analysis in end-stage renal disease. Genomics: 2000; 69 2 225 234
23. Govers-Riemslag J. W., Smid M., Cooper J. A., et al. The plasma kallikrein-kinin system and risk of cardiovascular disease in men. J Thromb Haemost: 2007; 5 9 1896 1903 (Pubitemid 47288948)
24. Pantos A., Tsogas I., Paleos C. M. Guanidinium group Guanidinium group: a versatile moiety inducing transport and multicompartmentalization in complementary membranes. Biochim Biophys Acta: 2008; 1778 4 811 823
25. Saito H., Goodnough L. T., Soria J., Soria C., Aznar J., España F. Heterogeneity of human prekallikrein deficiency (Fletcher trait): evidence that five of 18 cases are positive for cross-reacting material. N Engl J Med: 1981; 305 16 910 914 (Pubitemid 11014530)
26. Currimbhoy Z., Vinciguerra V., Palakavongs P., Kuslansky P., Degnan T. J. Fletcher factor deficiency and myocardial infarction. Am J Clin Pathol: 1976; 65 6 970 974
27. De Stefano V., Leone G., Teofili L., et al. Association of Graves' disease and prekallikrein congenital deficiency in a patient belonging to the first CRM+ prekallikrein-deficient Italian family. Thromb Res: 1990; 60 5 397 404
28. Girolami A., Allemand E., Bertozzi I., Candeo N., Marun S., Girolami B. Thrombotic events in patients with congenital prekallikrein deficiency: a critical evaluation of all reported cases. Acta Haematol: 2010; 123 4 210 214
29. Harris M. G., Exner T., Rickard K. A., Kronenberg H. Multiple cerebral thrombosis in Fletcher factor (prekallikrein) deficiency: a case report. Am J Hematol: 1985; 19 4 387 393 (Pubitemid 15004921)
30. Kyrle P. A., Niessner H., Deutsch E., Lechner K., Korninger C., Mannhalter C. CRM+ severe Fletcher factor deficiency associated with Graves' disease. Haemostasis: 1984; 14 4 302 306 (Pubitemid 14017260)
31. Cichon S., Martin L., Hennies H. C., et al. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet: 2006; 79 6 1098 1104 (Pubitemid 44853481)
32. Zuraw B. L., Christiansen S. C. Pathogenesis and laboratory diagnosis of hereditary angioedema. Allergy Asthma Proc: 2009; 30 5 487 492
33. Bork K., Wulff K., Meinke P., Wagner N., Hardt J., Witzke G. A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor. Clin Immunol: 2011; 141 1 31 35
34. Gómez-Traseira C., López-Lera A., Drouet C., et al. Hereditary angioedema caused by the p.Thr309Lys mutation in the F12 gene: a multifactorial disease. J Allergy Clin Immunol: 2013; 132 4 986 989, e1-e5
35. Girolami A., Agostino D., Cliffton E. E. The effect of ellagic acid on coagulation in vivo. Blood: 1966; 27 1 93 102
36. Girolami A., Cliffton E. E. Hypercoagulable state induced in humans by the intravenous administration of purified ellagic acid. Thromb Diath Haemorrh: 1967; 17 1-2 165 175
37. Lu X., Zhao W., Huang J., et al. Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study. Hum Genet: 2007; 121 3-4 327 335 (Pubitemid 46554669)