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作者报告一个家庭其7个成员均有补体缺乏。父母及2个小孩为杂合子 C_3缺乏,另3个小孩为纯合子 C_3缺乏,所有患儿对感染均有不同程度的易感性。1例杂合子 C_3缺乏患儿患有膜增殖性肾炎,3例纯合子 C_3缺乏患儿有蛋白尿和/或镜下血尿。这一发现进一步支持 C_3缺乏易患肾炎的说法。用 C_(1q)联附测定(C_(1q) binding assay),所有3例纯合子 C_3缺乏者均检出免疫复合物,其中2例血清 C_2也降低,提示这些免疫复合物经传统途径活化补体。
The authors report a lack of complement in seven members of a family. Parents and two children were heterozygous C_3 deficiency, and the other three children were deficient in homozygote C_3. All children had different degrees of susceptibility to infection. One patient with heterozygous C_3 deficiency had proliferative glomerulonephritis and three patients with homozygous C_3 deficiency had proteinuria and / or microscopic hematuria. This finding further supports the argument that C_3 lacks susceptibility to nephritis. Immune complexes were detected in all 3 cases of homozygous C_3 deficiency with C_ (1q) binding assay (C_ (1q) binding assay), and 2 cases of serum C_2 also decreased, suggesting that these immune complexes activated complement .