Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn

Miguel Fernández-Burriel Tercero; Antonio Molinés Honrubia; Núria Sala Serra; Manuel Negrín López; Jordi Corral Seijas; Maria Teresa Gomez-Casares

doi:10.1055/s-0037-1614309

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2005; 94(01): 216-218
DOI: 10.1055/s-0037-1614309

Case Report

Schattauer GmbH

Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn

Miguel Fernández-Burriel Tercero^*

¹Hospital Universitario Materno-Infantil de Canarias, Laboratorio de Genética Molecular. Servicio de Análisis Clínicos, Las Palmas de Gran Canaria, Canary Islands, Spain

,

Antonio Molinés Honrubia^*

²Hospital Universitario Materno-Infantil de Canarias, Servicio de Hematología, Las Palmas de Gran Canaria, Canary Islands, Spain

,

Núria Sala Serra

³Hospital Duran i Reynals, Centre de Genètica Mèdica i Molecular-IRO, Barcelona, Spain

,

Manuel Negrín López

²Hospital Universitario Materno-Infantil de Canarias, Servicio de Hematología, Las Palmas de Gran Canaria, Canary Islands, Spain

,

Jordi Corral Seijas

³Hospital Duran i Reynals, Centre de Genètica Mèdica i Molecular-IRO, Barcelona, Spain

,

Maria Teresa Gomez-Casares

⁴Hospital General de Gran Canaria Doctor Negrín, Servicio de Hematología, Las Palmas de Gran Canaria, Canary Islands, Spain

References
1 Marlar RA, Montgomery RR, Broekmans AW. 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 of Thrombosis and Haemostasis. J Paediatr 1989; 114: 528-534.
2 Nizzi FA, Jr Kaplan HS. Protein C and S deficiency. Semin Thromb Hemost 1999; 25: 265-272.
3 Chan YC, Valenti D, Mansfield AO, Stansby G. Warfarin induced skin necrosis. Br J Surg 2000; 87: 266-272.
4 Andrew M, Paes B, Milner R. et al. Development of the human coagulation system in the healthy premature infant. Blood 1988; 72: 1651-1657.
5 Skibola CF, Smith MT, Kane E, Roman E, Rollinson S, Cartwright RA, Morgan G. Polymorphisms in the methylentetrahydrofolatereductase gene are associated with susceptibility to acute leukaemia in adults. PNAS 1999; 96: 12810-12815.
6 Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3’-untranslated region of the Prothrombin gene is associated with elevated plasma prothrombin levels and a increase in venous thrombosis. Blood 1996; 88: 3698-703.
7 Soria JM, Morell M, Jiménez-Astorga C. et al. Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene. Thromb Haemost 1995; 74: 1215-20.
8 Gandrille S, Alhenc-Gelas M, Gaussem P. et al. Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity. Blood 1993; 82: 159-68.
9 Romeo G, Hassan HJ, Staempfli S. et al. Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. Proc Natl Acad Sci U S A 1987; 84: 2829-32.
10 Millar DS, Johansen B, Berntorp E. et al. Molecular genetic analysis of severe protein C deficiency. Hum Genet 2000; 106: 646-53.
11 Alhenc-Gelas M, Gabdrille S, Aubry M-L. et al. Thirty-three novel mutations in the Protein C gene. Thromb Hemost 2000; 83: 86-92.
12 Dreyfus M, Masterson M, David M. et al. Replacement therapy with a monoclonal antibody purified protein C concentrate in newborns with severe congenital protein C deficiency. Semin Thromb Hemost 1995; 21: 371-81.
13 Pescatore SL. Clinical management of Protein C deficiency. Exp Opin Pharmacother 2001; 2: 431-9.
14 Frosst P, Blom H. J, Milos R. et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolatereductase. Nature Genet 1995; 10: 111-3.
15 Steinkamp M, Geva A, Joffe S. et al. Chronic disseminated intravascular coagulation and childhoodonset skin necrosis resulting from homozygosity for a Protein C Gla domain mutation, Arg15Trp. J Pediatr Hemat Oncol 2002; 24: 685-8.
16 Dreyfus M, Magny JF, Bridey F. et al. Treatment of homozygous protein C deficiency and neonatal purpura fulminans with a purified protein C concentrate. N. Engl J Med 1991; 325: 1565-8.
17 Sanz-Rodriguez C, Gil-Fernandez JJ, Zapater P. et al. Long-term management of homozygous protein C deficiency: replacement therapy with subcutaneous purified protein C concentrate. Thromb Haemost 1999; 81: 887-90.
18 Minford AM, Parapia LA, Stainforth C. et al. Treatment of homozygous protein C deficiency with subcutaneous protein C concentrate. Br J Haematol 1996; 93: 215-6.
19 Monagle P, Andrew M, Halton J. et al. Homozygous Protein C deficiency: description of a new mutation and successful treatment with Low Molecular Weight Heparin. Thromb Haemost 1998; 79: 756-61.