Kidney Res Clin Pract.
2012 Mar;31(1):72-75.
Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report
- Affiliations
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- 1Department of Internal Medicine, Seoul National University Hospital, Korea.
- 2Department of Laboratory Medicine, Seoul National University Hospital, Korea.
- 3Department of Laboratory Medicine, National Medical Center, Korea.
- 4Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. mednep@snuh.org
Abstract
- Vascular access thrombosis is one of the major causes of morbidity in patients maintained on chronic hemodialysis. Thrombophilia has been recognized as a risk factor of vascular access thrombosis. The authors report a case of inherited protein S deficiency associated with vascular access thrombotic events. DNA sequence analysis of the PROS1 gene identified a novel heterozygous nonsense mutation in exon 10 by transition of AAG (lysine) to TAG (stop codon) at codon 473 (c.1417A>T, p.K473X). Results from the study suggest that the inherited protein S deficiency due to a PROS1 gene mutation may cause vascular access thrombosis in hemodialysis patients.
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