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Kidney Res Clin Pract. 2012 Mar;31(1):72-75. English. Case Report.
Cho EJ , Kim YC , Hwang JH , Lee H , Park SS , Kim SY , Kim S , Chin HJ .
Department of Internal Medicine, Seoul National University Hospital, Korea.
Department of Laboratory Medicine, Seoul National University Hospital, Korea.
Department of Laboratory Medicine, National Medical Center, Korea.
Department 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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