Zimran A, Rudensky B, Kramer M R, Tedesco F, Ehrenfeld M, Raz R, Greif Z, Gelber M, Lishner M, Golan E
Department of Medicine, Shaare Zedek Medical Center, Jerusalem, Israel.
Q J Med. 1987 Apr;63(240):349-58.
The prevalence of complement deficiency was studied among 111 survivors of sporadic meningococcal disease located through the medical records of 10 Israeli hospitals. There were 11 patients with CH50 = 0: one with systemic lupus erythematosus and 10 with hereditary terminal complement deficiency (four with homozygous C7 and six with C8 deficiency). There was no hereditary complement deficiency among 39 Ashkenazi subjects as against 18 per cent among 38 Sephardi subjects and 40 per cent among 15 of Moroccan ancestry (p less than 0.05). The age at first presentation of meningococcal disease in complement deficient patients was 14.7 +/- 7.6, years compared with 8.1 +/- 10.9 in the non-deficient patients (p less than 0.025). None of the complement deficient patients had meningitis below the age of 5 years vs. 49 per cent of non-deficient subjects. Recurrent meningitis was observed in 40 vs. 4 per cent (p less than 0.01) and meningitis in siblings in 40 vs. 2 per cent respectively (p less than 0.001). In addition to the 10 propositi, 11 non-propositus siblings were identified with severe complement deficiency (six with homozygous C7 and five with C8 deficiency). Seven of the non-propositi had no history at all of meningitis or any other serious systemic disease, underlining the relatively favourable prognosis of terminal complement deficiency. With increasing familiarity with the clinical features of this hereditary disease, it is possible now to identify on clinical grounds patients with meningococcal disease with a high likelihood of terminal complement deficiency.
通过以色列10家医院的病历，对111例散发性脑膜炎球菌病幸存者的补体缺陷患病率进行了研究。有11例患者CH50 = 0：1例患有系统性红斑狼疮，10例患有遗传性终末补体缺陷（4例为纯合子C7缺陷，6例为C8缺陷）。39名阿什肯纳兹人中没有遗传性补体缺陷，而38名西班牙裔人中这一比例为18%，15名有摩洛哥血统的人中这一比例为40%（p<0.05）。补体缺陷患者首次出现脑膜炎球菌病的年龄为14.7±7.6岁，而非缺陷患者为8.1±10.9岁（p<0.025）。补体缺陷患者中没有5岁以下患脑膜炎的，而非缺陷患者中这一比例为49%。复发性脑膜炎在补体缺陷患者中为40%，在非缺陷患者中为4%（p<0.01），脑膜炎在同胞中的发生率分别为40%和2%（p<0.001）。除了10名先证者外，还确定了另外11名非先证者同胞有严重补体缺陷（6例为纯合子C7缺陷，5例为C8缺陷）。其中7名非先证者根本没有脑膜炎或任何其他严重全身性疾病史，这突出了终末补体缺陷相对良好的预后。随着对这种遗传性疾病临床特征的日益熟悉，现在有可能根据临床情况识别出极有可能患有终末补体缺陷的脑膜炎球菌病患者。
