[C1 抑制剂缺乏症。遗传性和获得性形式。症状、诊断及治疗问题]

[C1 inhibitor deficiency. Heredity and acquired forms. Symptoms, diagnostic and therapeutic problems].

作者信息

Obtułowicz Krystyna, Kapusta Maria, Obtułowicz Aleksander, Mazurkiewicz Antonina

机构信息

Katedra Medycyny Pracy i Chorób Srodowiskowych Zakład Alergologii Przemysłowej Collegium Medicum, Uniwersytet Jagielloński, Kraków.

出版信息

Przegl Lek. 2002;59(6):438-41.

PMID:12418282

Abstract

C1 inhibitor deficiency can be hereditary (Type I and II) or acquired (Type I and II). Clinically it is manifested by recurrent attacks of angioedema which may involve skin, airways and digestive tract. The acquired form of C1 inhibitor deficiency is associated with lymphoproliferative or connective tissue disorders as well as with autoimmunization. Clinical symptoms are similar in all forms of C1 inhibitor deficiencies and they are connected with low serum level of C4 as well as with decreased activity of C1 inhibitor. In acquired angioedema additionally they are also decreased C1 and C1q and in type II C3 serum concentration is diminished. The drugs of choice are anabolics (danazol, stanazolol). Antifibrinolitic drugs are also used, especially in acquired forms of C1 inhibitor deficiency. The infusion of C1 inhibitor concentrate is used in acute emergency treatment.

摘要

C1 抑制剂缺乏可分为遗传性（I 型和 II 型）或获得性（I 型和 II 型）。临床上表现为反复发作的血管性水肿，可累及皮肤、气道和消化道。获得性 C1 抑制剂缺乏与淋巴增殖性疾病或结缔组织疾病以及自身免疫有关。所有形式的 C1 抑制剂缺乏的临床症状相似，且与血清 C4 水平降低以及 C1 抑制剂活性降低有关。在获得性血管性水肿中，C1 和 C1q 也会降低，II 型中 C3 血清浓度会降低。首选药物是合成代谢类药物（达那唑、司坦唑醇）。也使用抗纤维蛋白溶解药物，尤其是在获得性 C1 抑制剂缺乏的情况下。C1 抑制剂浓缩物输注用于急性紧急治疗。