| Background and Objective: Budd-Chiari syndrome (B-CS) is a severe disease which harm the health of people seariously, the nature prognosis is very poor. It presents the outlet obstruction of major hepatic veins (MHVs) and/or retrohepatic inferior vena cava (IVC) which results in portal hypertension (PHT) and/or IVC hypertension syndrome. Since Budd described this disease firstly in 1845, almost 170 years had past, thanks to the development of the medical technology in the past decade, a large amount of cases were diagnosed and reported. The incidence of B-CS is about 4~6 per 100, 000 in China. Most of the cases distributed in Northern provinces, such as Henan, Anhui, Shandong and Hebei etc. Xupeiqin et al. had treated more than 1300 cases since 1983 in the General Surgery Department of the First Affiliated Hospital of ZhengZhou University. They concluded the proper clinical typing of B-CS and correspondent treatment methods, but there were few homeland researchers had done some works in the etiology of B-CS. According to the etiology, we can divide the syndrome into secondary or primary. The secondary B-CS refers to the syndrome results from definite disease especially myeloproliferative disorders- including polycythemia vera and polyplastocytosis. There arealso other diseases such as ant i phospho I i p i d antibodies, paroxysmal nocturnal hemoglobinur ia, systemic lupus er ithematosus, Bechet ' s d i sease, coe I i ac d i sease and care i noma may i nduce the occurrence of B-CS. Oral contraceptive usage and pregnancy are cooperative facts may play a role in the pathogenesis of B-CS. B-CS may be primary and refers to the idiopathic case. As to the primary B-CS, there are congenital membrane theory and acquired thrombosis theory to illustrate the cause. The deficiency of protein C, protein S and antithrombin in may take effects in the pathogenesis of B-CS. In recent years, a large part of the research in etiology of B-CS focused on the congenital effects which would enhance the hypercoagulative state of people, especial ly factor V gene 1691 G-籄 mutation (FVLeiden), prothromb in gene 20210 G - A mutation (FIIG20210A) and and 5, 1C- methylenetetrahydrofolate reductase gene 667C-*T mutation (MTHFR C667T) etc. There are some papers reporting the relations of B-CS to FVLeiden and FIIG20210A mutants in the world, but the conclusions are different. In order to explore whether the Chinese B-CS patients have relations to FVLeiden and FIIG20210A mutations or not, we detect the occurrence frequencies of these two genes polymorphisms comparatively in B-CS patients group and healthy controls by using polymerase chain reaction - restriction fragment length polymorphisms (PCR - RFLP) method, furthermore, we discuss the roles these two mutants played in the pathogenesis of Chinese B-CS.Data and methods: There were four patients in fami Hal B-CS group, they were two pairs of siblings who occurred with B-CS simultaneously, one pair was sisters, the other pair was an elder sister and a young brother. The female cases were three and male one. Forty-nine cases insporadic B-CS group, female, 20; male, 29. Seventy controls were healthy blood donors in Henan Blood Center, female, 30; male, 40. All subjectswere Chinese people and excluded injury, postoperation, infection, mye I odysp I ast i c syndrome, antiphosphol ipid antibody syndrome, paroxysmal nocturnal hemoglobinur ia, systemic lupus er ithematosus and Bechet' s disease, female cases weren' t in pregnancy or using oral contraceptive, at the same time, also excluded other system diseases.Three milliliters venous blood were drawn from each patient and control and reserved after anticoagulant process. The genome DNA was purified in time, amp I if ied the speci... |
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