KCTBASE

새로운 PROS1 유전자 변이에 따른 S 단백 결핍증에 의한 간문맥-비장정맥-장간막정맥 혈전증 1예
Portal-Splenic-Mesenteric Venous Thrombosis in a Patients with Protein S Deficiency due to Novel PROS1 Gene Mutation

대한소화기학회지 2014년 64권 2호 p.110 ~ p.114

황의태(Hwang Eui-Tae) - 명지병원 소화기내과
강원식(Kang Wom-Sik) - 명지병원 소화기내과
박진우(Park Jin-Woo) - 명지병원 소화기내과
이지현(Lee Ji-Hyun) - 명지병원 소화기내과
한현정(Han Hyun-Jeong) - 명지병원 소화기내과
신상용(Shin Sang-Yong) - 성균관대학교 의과대학 삼성서울병원 진단검사의학교실
김희진(Kim Hee-Jin) - 성균관대학교 의과대학 삼성서울병원 진단검사의학교실
최자성(Choi Ja-Sung) - 명지병원 소화기내과

Abstract

Protein S (PS), a vitamin K-dependent glycoprotein, performs an important role in the anticoagulation cascade as a cofactor of protein C. Because of the presence of a pseudogene and two different forms of PS in the plasma, protein S deficiency (PSD) is one of the most difficult thrombophilias to study and a rare blood disorder associated with an increased risk of thrombosis. We describe a unusual case of previously healthy 37-year-old man diagnosed with portal-splenic-mesenteric vein thrombosis secondary to PSD. The patient was admitted to the hospital due to continuous nonspecific abdominal pain and nausea. Abdominal computed tomography revealed acute venous thrombosis from inferior mesenteric vein to left portal vein via splenic vein, and laboratory test revealed decreased PS antigen level and PS functional activity. Conventional polymerase chain reaction and direct DNA sequencing analysis of the PROS1 gene demonstrated duplication of the 166th base in exon 2 resulting in frame-shift mutation (p.Arg56Lysfs*10) which is the first description of the new PROS1 gene mutation to our knowledge. Results from other studies suggest that the inherited PSD due to a PROS1 gene mutation may cause venous thrombosis in a healthy young man without any known predisposing factor.

키워드

Protein S deficiency, Venous thrombosis, Blood coagulation disorders

KMID : 0614620140640020110

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DOI

KCD코드

ICD 03

건강보험코드

새로운 PROS1 유전자 변이에 따른 S 단백 결핍증에 의한 간문맥-비장정맥-장간막정맥 혈전증 1예 Portal-Splenic-Mesenteric Venous Thrombosis in a Patients with Protein S Deficiency due to Novel PROS1 Gene Mutation

Abstract

키워드

새로운 PROS1 유전자 변이에 따른 S 단백 결핍증에 의한 간문맥-비장정맥-장간막정맥 혈전증 1예
Portal-Splenic-Mesenteric Venous Thrombosis in a Patients with Protein S Deficiency due to Novel PROS1 Gene Mutation