Cugno M, Nuijens J, Hack E, Eerenberg A, Frangi D, Agostoni A, Cicardi M
Cattedra di Clinica Medica Università di Milano, Ospedale S. Paolo, Italy.
J Clin Invest. 1990 Apr;85(4):1215-20. doi: 10.1172/JCI114555.
C1- inhibitor (C1(-)-Inh) catabolism in plasma of patients with hereditary angioneurotic edema (HANE) was assessed by measuring the complexes formed by C1(-)-Inh with its target proteases (C1-s, Factor XIIa, and kallikrein) and a modified (cleaved) inactive form of C1(-)-Inh (iC1(-)-Inh). This study was performed in plasma from 18 healthy subjects and 30 patients with HANE in remission: 20 with low antigen concentration (type I) and 10 (from 5 different kindreds) with dysfunctional protein (type II). Both type-I and type-II patients had increased C1(-)-C1(-)-Inh complexes (P less than 0.0001), which in type I inversely correlated with the levels of C1(-)-Inh (P less than 0.001). iC1(-)-Inh was normal in all type-I patients and in type-II patients from three families with increased C1(-)-Inh antigen, whereas iC1(-)-Inh was higher than 20 times the normal values in patients from the remaining two families with C1(-)-Inh antigen in the normal range. None of the subjects had an increase of either Factor XIIa-C1(-)-Inh or kallikrein-C1(-)-Inh complexes. This study shows that the hypercatabolism of C1(-)-Inh in HANE patients at least in part occurs via the formation of complexes with C1- and that genetically determined differences in catabolism of dysfunctional C1(-)-Inh proteins are present in type-II patients.
通过测量C1抑制物(C1(-)-Inh)与其靶蛋白酶(C1-s、因子XIIa和激肽释放酶)以及C1(-)-Inh的一种修饰(裂解)无活性形式(iC1(-)-Inh)形成的复合物,评估遗传性血管性水肿(HANE)患者血浆中C1抑制物的分解代谢情况。本研究在18名健康受试者和30名处于缓解期的HANE患者的血浆中进行:20名抗原浓度低的患者(I型)和10名(来自5个不同家系)蛋白功能异常的患者(II型)。I型和II型患者的C1(-)-C1(-)-Inh复合物均增加(P<0.0001),I型患者中该复合物与C1(-)-Inh水平呈负相关(P<0.001)。所有I型患者以及来自三个C1(-)-Inh抗原增加家系的II型患者的iC1(-)-Inh均正常,而在其余两个C1(-)-Inh抗原在正常范围内的家系的患者中,iC1(-)-Inh高于正常值20倍以上。所有受试者的因子XIIa-C1(-)-Inh或激肽释放酶-C1(-)-Inh复合物均未增加。本研究表明,HANE患者中C1(-)-Inh的高分解代谢至少部分是通过与C1形成复合物而发生的,并且II型患者中存在功能异常的C1(-)-Inh蛋白分解代谢的遗传决定差异。