Genetics of thrombosis in pseudotumor cerebri of nephropathic cystinosis

使用血栓易感性面板，我们筛选肾病性胱氨酸病患者发展PTC以及控制肾病性胱氨酸病患者没有PTC。该检测组包括凝血酶原时间（PT）、活化部分凝血活酶时间（aPTT）、凝血酶时间（TT）、活化蛋白C抵抗（APCR）、蛋白C和S血清水平、抗凝血酶III、纤维蛋白原、总同型半胱氨酸、抗磷脂抗体（ACA检测组和AC狼疮）。在重度同型半胱氨酸血症（大于或等于100 μ mol/l）患者中，我们筛查FV Leiden突变、FV G1628 A多态性、FV R2等位基因、凝血酶原20210突变和5，10-亚甲基四氢叶酸还原酶（MTHFR）基因C677 T多态性。到目前为止，我们已经招募了五名PTC患者与预先存在的肾病性胱氨酸病。血栓形成筛查组显示2例患者凝血酶时间（TT）缩短，1例患者高滴度抗心磷脂（ACA）IgM抗体，1例患者活化蛋白C抵抗（APCR）。凝血酶时间测量纤维蛋白单体聚合的速率，并且是纤维蛋白原减少或异常的最敏感的筛选试验（缩短的TT表明纤维蛋白单体聚合加速，这有助于血栓形成趋势）。活化蛋白C抵抗是一种导致高凝状态的疾病，静脉血栓形成的风险增加; ACA的IgM同种型已被证明与静脉血栓形成相关。 因此，在研究的患者中，PTC的发生似乎没有单一的危险因素。

Using a thrombosis susceptibility panel, we screen nephropathic cystinosis patients who develop PTC as well as control nephropathic cystinosis patients without PTC. The panel includes prothrombin time (PT), activated partial thromboplastin time (aPTT), thrombin time (TT), activated protein C resistance (APCR), serum levels of protein C and S, antithrombin III, fibrinogen, total homocysteine, antiphospholipid antibodies (ACA panel and Lupus AC). In patients with severe homocysteinemia (greater than or equal to 100 micro mol/l), we screen for the FV Leiden mutation, FV G1628A polymorphism, FV R2 allele, prothrombin 20210 mutation, and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphisms. To date, we have recruited five patients with PTC with pre-existing nephropathic cystinosis. The thrombosis screening panel revealed shortened thrombin time (TT) in two patients, high-titer anticardiolipin (ACA) IgM antibodies in one patient, and activated protein C resistance (APCR) in one patient. Thrombin time measures the rate of fibrin monomer polymerization and is the most sensitive screening test for decreases or abnormalities in fibrinogen (a shortened TT demonstrates an acceleration of fibrin monomer polymerization, which contributes to thrombotic tendency). Activated protein C resistance is a condition that leads to a hypercoagulable state with an increased risk for venous thrombosis; the IgM isotype of ACA has been shown to be associated with venous thrombosis. Thus, there appears to be no single risk factor for the development of PTC in the patients studied.