Medizinische Universität Graz - Research portal
Selected Publication:
Zenz, W; Muntean, W; Gallistl, S; Leschnik, B; Beitzke, A.
Inherited resistance to activated protein C in a boy with multiple thromboses in early infancy.
Eur J Pediatr. 1995; 154(4):285-288
Doi: 10.1007%2Fs004310050290
(- Case Report)
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- Leading authors Med Uni Graz
- Zenz Werner
- Co-authors Med Uni Graz
- Beitzke Albrecht
- Gallistl Siegfried
- Leschnik Bettina
- Muntean Eugen
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- Abstract:
- Resistance to activated protein C is a recently discovered genetic defect with a high prevalence in adult patients with thromboembolic disease. It is an autosomal dominant disorder and is ten times more common in these patients than antithrombin III-, protein C- and protein S deficiency together. In spite of this high prevalence among adults with thromboembolic disease no clinical manifestation in infancy so far has been reported. We describe a 4-year-old boy with a complex cardiac malformation and inherited resistance to activated protein C, who developed multiple thromboses after cardiac catheterization in early infancy. Conclusion. Resistance to activated protein C can cause thrombosis in infants and children if additional risk factors for the development of thrombosis are present.
- Find related publications in this database (using NLM MeSH Indexing)
- Blood Coagulation Tests -
- Child, Preschool -
- Chromosome Aberrations - genetics
- Chromosome Disorders - genetics
- Enzyme Activation - genetics
- Genes, Dominant - genetics
- Heart Catheterization - genetics
- Heart Defects, Congenital - blood
- Humans - blood
- Male - blood
- Oligopeptides - genetics
- Pedigree - genetics
- Postoperative Complications - blood
- Protein C - genetics
- Risk Factors - genetics
- Thrombophlebitis - blood
- Find related publications in this database (Keywords)
- APC Resistance
- Factor V
- Infancy
- Thrombosis
- Cardiac Catheterization