Hereditary C2 deficiency in Sweden -: Frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease
Hereditary C2 deficiency in Sweden -: Frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease
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DOI：
10.1097/01.md.0000152371.22747.1e
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发表时间：
2005-01-01
期刊：
影响因子：
1.6
通讯作者：
Sjöholm, AG
中科院分区：
文献类型：
--
作者：
Jönsson, G;Truedsson, L;Sjöholm, AG
虽然经常无症状，但已知纯合子C2缺乏症（C2 D）与严重感染和风湿性疾病有关。我们描述了在瑞典超过25年的33个家庭的40人C2 D的临床结果。审查了涵盖96%累积人年的病历，平均观察时间为39年（范围：1-77年）。严重感染是该队列的主要临床表现：23例患者既往有侵袭性感染史，主要是肺炎链球菌引起的败血症或脑膜炎，12例患者反复感染。19例患者至少有1次肺炎发作，10例患者记录了复发性肺炎。反复感染主要发生在婴儿期和儿童期。系统性红斑狼疮10例。未分化结缔组织病（n = 4）或血管炎（n = 3）7例。我们发现对侵袭性感染的易感性与风湿性疾病之间没有相关性。心血管疾病发生率高，6例患者共发生10例急性心肌梗死和5例脑血管事件。C2 D患者的死亡原因为感染（n = 5），急性心肌梗死（n = 3）。癌症（n = 1）。我们认为严重感染可能是C2 D的主要临床表现。我们还提供了新的证据，C2 D在动脉粥样硬化的发展中可能发挥的作用与甘露聚糖结合缺陷和实验性C3缺陷的研究结果一致。此外，我们证实了C2 D和系统性红斑狼疮之间的众所周知的关联。
Although frequently asymptomatic, homozygous C2 deficiency (C2D) is known to be associated with severe infections and rheumatic disease. We describe the clinical findings in 40 persons with C2D from 33 families identified in Sweden over 25 years. Medical records covering 96% of the accumulated person-years were reviewed, giving a mean observation time of 39 years (range, 1-77 yr). Severe infection was the predominant clinical manifestation in the cohort: 23 patients had a past history of invasive infections, mainly septicemia or meningitis caused by Streptococcus pneumoniae, and 12 patients had repeated infections of this kind. Nineteen patients had at least 1 episode of pneumonia, and recurrent pneumonia was documented in 10 patients. Repeated infections occurred mainly during infancy and childhood. Systemic lupus erythematosus was found in 10 patients. Another 7 patients had undifferentiated connective tissue disease (n = 4) or vasculitis (n = 3). We found no correlation between susceptibility to invasive infection and rheumatologic disease. Cardiovascular disease occurred at a high rate, with a total of 10 acute myocardial infarctions and 5 cerebrovascular episodes in 6 patients. Causes of death among the C2D patients were infection (n = 5), acute myocardial infarction (n = 3). and cancer (n = 1). We suggest that severe infection may be the principal clinical manifestation of C2D. We also provide novel evidence for a possible role of C2D in the development of atherosclerosis consistent with findings in mannan-binding deficiency and experimental C3 deficiency. In addition, we confirm the well-known association between C2D and systemic lupus erythematosus.