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C_1抑制物的遗传缺陷是遗传性血管性水肿(HAE)的基本特征。因C_1抑制物缺乏所致补体过度活化可引起肾脏疾患。本院大约有10％的HAE病例合并有慢性肾小球肾炎。本文报告一个HAE家系,在四代中发现14名患者,其中2例于数年前死于喉水肿。存活的12例中,有3例发生慢性肾小球肾炎。其中1例做了肾活检,病理诊断为系膜增生性肾小球肾炎,其母患HAE并因慢性肾小球肾炎导致慢性肾功能衰竭,其表兄患HAE伴蛋白尿及管型尿。HAE的发作可加重肾脏疾患,故应予以长疗程的丹那唑治疗。
Genetic defects in C_1 inhibitors are a hallmark of hereditary angioedema (HAE). Kidney disorders can result from over-activation of complement due to lack of C-1 inhibitors. About 10% of HAE cases in our hospital have chronic glomerulonephritis. This article reports a HAE pedigree with 14 patients found in four generations, two of whom died of laryngeal edema a few years ago. Of the 12 surviving cases, 3 developed chronic glomerulonephritis. Among them, 1 had a renal biopsy and the pathology was diagnosed as mesangial proliferative glomerulonephritis. The mother had HAE and chronic renal failure due to chronic glomerulonephritis. The cousin had HAE with albuminuria and tubular urine. HAE attack can aggravate kidney disease, it should be a long course of treatment with danazol.