Nomura H, Tsugawa Y, Koni I, Tofuku Y, Mabuchi H, Takeda R, Sato T
Second Department of Internal Medicine, School of Medicine, Kanazawa University, Japan.
Intern Med. 1992 Jan;31(1):94-7. doi: 10.2169/internalmedicine.31.94.
Hereditary angioedema (HAE) is known as a deficiency state of C1 inhibitor (C1 INH), an important protease inhibitor protein involved in the complement system. As with other components of the classical pathway of the complement system, a state of its deficiency often causes clinical immunoregulatory disorders. A 45-yr-old brother and a 63-yr-old sister with HAE both developed chronic renal failure, probably due to chronic glomerulonephritis, and required regular hemodialysis. This is, to our knowledge, the first report of sibling cases of HAE associated with chronic renal failure.
遗传性血管性水肿（HAE）是一种C1抑制剂（C1 INH）缺乏状态，C1 INH是参与补体系统的一种重要蛋白酶抑制蛋白。与补体系统经典途径的其他成分一样，其缺乏状态常导致临床免疫调节紊乱。一名45岁的患有HAE的男性和一名63岁的患有HAE的女性均发展为慢性肾衰竭，可能是由于慢性肾小球肾炎所致，且需要定期进行血液透析。据我们所知，这是首例关于HAE同胞病例合并慢性肾衰竭的报道。
