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

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...

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Detalles Bibliográficos
Autores principales: Cho, Eun Jin, Kim, Yong Chul, Hwang, Jin Ho, Lee, Hajung, Park, Sung Sup, Kim, So Yeon, Kim, Suhnggwon, Chin, Ho Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715088/
https://www.ncbi.nlm.nih.gov/pubmed/26889411
http://dx.doi.org/10.1016/j.krcp.2011.12.003
Descripción
Sumario: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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