Protein C deficiency as the major cause of thrombophilias in childhood

Pediatrics International

Volumn 55, Issue 3, 2013, Pages 267-271

  Ohga, Shouichi ^a   Ishiguro, Akira ^c   Takahashi, Yukihiro ^d   Shima, Midori ^e   Taki, Masashi ^f   Kaneko, Masatoki ^g   Fukushima, Kotaro ^a   Kang, Dongchon ^b   Hara, Toshiro ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY HOSPITAL   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d Department of Clinical Chemistry and Laboratory Medicine Kyushu University Hospital ^*  (Japan)

^e NARA MEDICAL UNIVERSITY   (Japan)

^f ST MARIANNA UNIVERSITY   (Japan)

^g UNIVERSITY OF MIYAZAKI   (Japan)

Author keywords

intracranial hemorrhage; intracranial thrombosis; protein C deficiency; purpura fulminans

Indexed keywords

ANTITHROMBIN; PROTEIN C; PROTEIN S; ANTICOAGULANT AGENT;

CHILDHOOD DISEASE; DEEP VEIN THROMBOSIS; FULMINATING PURPURA; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; JAPAN; MUTANT; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN C DEFICIENCY; REVIEW; THROMBOPHILIA; VITAMIN K DEFICIENCY; ADOLESCENT; BLOOD; BLOOD CLOTTING TEST; CHILD; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; EARLY INTERVENTION; GENETICS; INFANT; METABOLISM; NEWBORN; PRESCHOOL CHILD; PROTEIN S DEFICIENCY; REFERENCE VALUE;

ADOLESCENT; ANTICOAGULANTS; ANTITHROMBINS; BLOOD COAGULATION TESTS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; EARLY DIAGNOSIS; EARLY MEDICAL INTERVENTION; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; PROTEIN C; PROTEIN C DEFICIENCY; PROTEIN S; PROTEIN S DEFICIENCY; REFERENCE VALUES; THROMBOPHILIA;

EID: 84879335684     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12102     Document Type: Review

References (26)

1. Parker RI,. Thrombosis in the pediatric population. Crit. Care Med. 2010; 38 (Suppl): S71-75.
2. Young G, Albisetti M, Bonduel M, et al. Impact of inherited thrombophilia on venous thromboembolism in children: a systematic review and meta-analysis of observational studies. Circulation 2008; 118: 1373-1382.
3. Kinoshita S, Iida H, Inoue S, et al. Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. Clin. Biochem. 2005; 38: 908-915.
4. Miyata T, Sato Y, Ishikawa J, et al. Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. Thromb. Res. 2009; 124: 14-18.
5. Sarangi PP, Lee HW, Kim M,. Activated protein C action in inflammation. Br. J. Haematol. 2010; 148: 817-833.
6. Goldenberg NA, Manco-Johnson MJ,. Protein C deficiency. Hemophilia 2008; 14: 1214-1221.
7. Price VE, Ledingham DL, Krümpel A, Chan AK,. Diagnosis and management of neonatal purpura fulminans. Semin. Fetal Neonatal Med. 2011; 16: 318-322.
8. Takahashi Y, Yoshioka A,. Hemostasis and its regulation system in childhood. Jpn. J. Pediatr. Hematol. 1994; 8: 389-397.
9. Flanders MM, Phansalkar AR, Crist RA, Roberts WL, Rodgers GM,. Pediatric reference intervals for uncommon bleeding and thrombotic disorders. J. Pediatr. 2006; 149: 275-277.
10. van Teunenbroek A, Peters M, Sturk A, Borm JJ, Breederveld C,. Protein C activity and antigen levels in childhood. Eur. J. Pediatr. 1990; 149: 774-778.
11. Tientadakul P, Chinthammitr Y, Sanpakit K, Wongwanit C, Nilanont Y,. Inappropriate use of protein C, protein S, and antithrombin testing for hereditary thrombophilia screening: an experience from a large university hospital. Int. J. Lab. Hematol. 2011; 33: 593-600.
12. Bereczky Z, Kovács KB, Muszbek L,. Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game. Clin. Chem. Lab. Med. 2010; 48: S53-66.
13. Faust SN, Levin M, Harrison OB, et al. Dysfunction of endothelial protein C activation in severe meningococcal sepsis. N. Engl. J. Med. 2001; 345: 408-416.
14. Chalmers E, Cooper P, Forman K, et al. Purpura fulminans: recognition, diagnosis and management. Arch. Dis. Child. 2011; 96: 1066-1071.
15. Davis MD, Dy KM, Nelson S,. Presentation and outcome of purpura fulminans associated with peripheral gangrene in 12 patients at Mayo Clinic. J. Am. Acad. Dermatol. 2007; 57: 944-956.
16. Ishiguro A, Taki M, Manabe A, Ogawa C, Nakadate H, Shima M,. The first national survey of thrombotic disorders in Japanese children (OS-3-116). Jpn. J. Clin. Hematol. 2011; 52: 1139.
17. Hayakawa T, Morimoto A, Nozaki Y, et al. Mesenteric venous thrombosis in a child with type 2 protein S deficiency. J. Pediatr. Hematol. Oncol 2011; 33: 141-143.
18. Sakata T, Okamoto A, Mannami T, Tomoike H, Miyata T,. Prevalence of protein S deficiency in the Japanese general population: the Suita Study. J. Thromb. Haemost. 2004; 2: 1012-1013.
19. Ohga S, Kang D, Kinjo T, et al. Pediatric presentation and treatment of congenital protein C deficiency in Japan. Haemophilia 2013; doi: 10.1111/hae.12097.
20. Kawaguchi C, Takahashi Y,. A recent national survey of neonatal thrombosis in Japan. Comparison with mailing Questionnaires in 2004 in Japan. (P-TH-389). XXIII Congress of the International Society on Thrombosis and Haemostasis 2011: 381.
21. Manco-Johnson MJ, Marlar RA, Jacobson LJ, Hays T, Warady BA,. Severe protein C deficiency in newborn infants. J. Pediatr. 1988; 113: 359-363.
22. Manco-Johnson MJ, Abshire TC, Jacobson LJ, Marlar RA,. Severe neonatal protein C deficiency: prevalence and thrombotic risk. J. Pediatr. 1991; 119: 793-798.
23. Matsunaga Y, Ohga S, Kinjo T, et al. Neonatal asphyxia and renal failure as the presentation of severe protein C deficiency. J. Perinatol. 2013; 33: 239-241.
24. Tang W, Basu S, Kong X, et al. Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. Blood 2010; 116: 5032-5036.
25. Oudot-Mellakh T, Cohen W, Germain M, et al. Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. Br. J. Haematol. 2012; 157: 230-239.
26. Ranieri VM, Thompson BT, Barie PS, et al. Drotrecogin alfa (activated) in adults with septic shock. N. Engl. J. Med. 2012; 366: 2055-2064.