Králíčková Pavlína, Andrýs Ctirad, Freiberger Tomáš, Krejsek Jan
Vnitr Lek. 2020 Spring;66(2):87-91.
C2 deficiency represents the most frequent type of a complement deficiency. Clinical manifestation includes infections caused by encapsulated bacteria (Steptococcus pneumoniae, Neisseria meningitidis) such as meningitis, gonitis, pneumonia or septicaemia. A causative treatment has not been available yet. A prophylactic vaccination and/or a long-term antibiotics prophylaxis are recommended. Here we report 2 patients from 2 unrelated families. The first patient suffered from recurrent otitis in his childhood. He underwent osteomyelitis, meningitis complicates with hear-loss, and one episode of pneumonia during adulthood. The second index patient underwent uncomplicated meningitis in his preschool age. He has been treated for recurrent upper-airways infections later. His sister has been completely asymptomatic. The deletion 28 bp (c.841-849+19del28) in C2-gene was detected in all of them in homozygous form. Our paper highlights the variability of a clinical manifestation in homozygous carriers, ranged from asymptomatic cases to patients with history of severe complications. The diagnosis is frequently made even in adulthood.
C2缺陷是补体缺陷最常见的类型。临床表现包括由包膜细菌（肺炎链球菌、脑膜炎奈瑟菌）引起的感染，如脑膜炎、淋病、肺炎或败血症。目前尚无病因治疗方法。建议进行预防性疫苗接种和/或长期抗生素预防。在此我们报告来自2个无亲缘关系家庭的2例患者。首例患者童年时反复患中耳炎。成年期患骨髓炎、并发听力丧失的脑膜炎以及1次肺炎。第二例索引患者在学龄前患无并发症的脑膜炎。后来他因反复上呼吸道感染接受治疗。他的妹妹完全无症状。在所有患者中均检测到C2基因纯合形式的28 bp缺失（c.841-849+19del28）。我们的论文强调了纯合携带者临床表现的变异性，范围从无症状病例到有严重并发症病史的患者。即使在成年期也常能做出诊断。
