遗传性血栓性血小板减少性紫癜的临床研究

A clinical study of congenital thrombotic thrombocytopenic purpura

目的通过观察1例遗传性血栓性血小板减少性紫癜(TTP)患者血小板数、血管性血友病因子裂解蛋白酶(ADAMTS13)活性和抗原水平、抗内皮细胞抗体(AECA)、凝血酶敏感蛋白(TSP1)等指标在治疗中的变化,并与原发性TTP比较,深入研究遗传性TTP发病的特点。方法使用血细胞仪计数、ADAMTS13检测试剂盒、残余胶原结合实验、细胞ELISA、TSP1检测试剂盒进行检测。结果遗传性TTP患者血小板数呈周期性变化,但周期可逐渐延长;ADAMTS13抗原含量治疗前和发病间期为(22.79±14.61)U/L,活性缺乏;该例遗传性TTP患者AECA的吸光度(A)值为0.58±0.06;TSP1治疗前为(4.67±1.62)mg/L。原发性TTP治疗前此三项指标分别为(116.89±69.53)U/L、0.89±0.19、(6.18±2.37)mg/L。结论遗传性TTP发病规律并非一成不变,其特点也不同于原发性TTP,ADAMTS13和AECA含量均远低于原发性TTP,TSP1水平与原发性TTP相近。

Objective To study on the first Chinese congenital thrombotic thrombocytopenic purpura （TIP） patient with respect to peripheral blood platelet count and ADAMTS13 activity, ADAMTS13 antigen, anti-endothelial cell antibody（ACEA）, and thrombospondinl （TSP1）etc. to compared it with idiopathic TIP and to explore something special and meaningful in the pathogenesis of congenital TIP. Methods A total of 30 volunteers served as controls. The congenital TIP patient and 10 carriers in her pedigree as well as 7 idiopathic TIP patients were included in this study. Residue collagen binding assay and a newly developed sandwich ELISA were used for determination of ADAMTS13 activity and antigen respectively. An ELISA for ACEA and a commercial kit for TSP1 were use in the study. Results After a ＂3-4 weeks regular relapse＂ of the congenital TIP, which is similar to that in other reports , the Chinese patient moved into a new relapse cycle. The average of the antigen levels of this patient before plasma exchange （PE） and at the interval between relapses was （22.79 ± 14. 61 ） U/L （P 〈0. 01 ）, while that of Chinese normal control （NC） turned out to be （600. 93 ± 145. 36 ） U/L. TSP1 detected at the same time （4. 67 ± 1.62） mg/L in the congenital TIP patient was much lower than that in NC（ 18. 34 ±7. 24） mg/L （P 〈 0. 01 ）. A value in ACEA assay was 0. 58 ±0. 06 （P 〈 0. 01 ） for congenital TIP, which was a little higher than that in NC （0. 40 ± 0. 13）. Conclusions Congenital TIP may have changeable relapse cycles during episodes. ADAMTS13 antigen and TSP1 and ACEA in congenital TIP showed significant difference as compared with those in NC. ADAMTS13 and ACEA in congenital TIP were also markedly lower than those in idiopathic TIP.