Kaplan A P
Department of Medicine, Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, Charleston 29425, USA.
J Investig Allergol Clin Immunol. 2001;11(4):211-9.
C1 inhibitor deficiency can be hereditary or acquired. The hereditary disorder has two types, each of which is inherited as a dominant disorder, with genetic mechanisms leading either to low levels of normal C1 INH and little or no mutant problem as a result of mRNA or protein synthetic defects or degradative mechanisms (Type I) or with point mutations and synthesis of a functionless protein product with transinhibition of the normal allele (Type II). The acquired disorder with low C1q is due to C1 INH consumption associated with lymphoma or connective tissue disease (Type I) and/or autoimmune mechanisms (Type II). The swelling of all types is due to absence of inhibition of the plasma kinin forming cascade with liberation of bradykinin while complement activation, a critical marker of the disorder, is not responsible for the swelling. Treatment employs androgenic compounds, antifibrinolytic agents, or replacement therapy.
C1 抑制物缺乏症可分为遗传性和后天性。遗传性疾病有两种类型，每种类型均以显性疾病遗传，其遗传机制要么导致正常 C1 INH 水平低下，由于 mRNA 或蛋白质合成缺陷或降解机制几乎没有或不存在突变问题（I 型），要么存在点突变并合成无功能的蛋白质产物，对正常等位基因产生反式抑制作用（II 型）。C1q 水平低的后天性疾病是由于与淋巴瘤或结缔组织疾病相关的 C1 INH 消耗（I 型）和/或自身免疫机制（II 型）。所有类型的肿胀都是由于缺乏对血浆激肽形成级联反应的抑制，导致缓激肽释放，而补体激活作为该疾病的关键标志物，与肿胀无关。治疗采用雄激素类化合物、抗纤溶药物或替代疗法。
