Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology
Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology
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DOI：
10.1111/j.1365-2249.2007.03321.x
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发表时间：
2007-04-01
影响因子：
4.6
通讯作者：
Goldblatt, D.
中科院分区：
文献类型：
--
作者：
Cale, C. M.;Morton, L.;Goldblatt, D.
本研究的目的是确定抗核抗体（ANA）测试在调查x连锁慢性肉芽肿病（CGD）女性携带者皮肤和其他狼疮症状中的效用。我们对19名来我院就诊的带病母亲进行了前瞻性研究，直接询问带病母亲的症状，检测抗核抗体和抗磷脂抗体。共有58%的人报告了明显的光敏性皮疹，42%的人报告了口腔溃疡，37%的人抱怨无法归因于其他已知原因的关节疼痛。73%的携带者抗核抗体（ANA）检测为阴性。5例阳性抗体滴度均较低（2例女性Hep 2细胞滴度最高为1:20 20），仅有1例弱阳性双链DNA抗体，未发现可提取的核抗体。有几位母亲，尽管血清学呈阴性，但从转诊到专家那里受益，在某些情况下还接受了特殊治疗。X-CGD患者的女性亲属应积极询问皮疹、关节疼痛、疲劳和口腔溃疡史，但狼疮血清学阴性不应排除转诊到适当的皮肤科或风湿科服务。因为适当的治疗可能会对症状产生良好的反应。
The objective of this study was to determine the utility of anti-nuclear antibody (ANA) testing in the investigation of cutaneous and other lupus symptoms in female carriers of X-linked chronic granulomatous disease (CGD). We undertook a prospective study of 19 carrier mothers attending our institution, with direct questioning of carriers concerning symptoms and testing for anti-nuclear and anti-phospholipid antibodies. A total of 58% reported significant photosensitive skin rashes, 42% reported mouth ulcers and 37% complained of joint pains that could not be attributed to other known causes. Anti-nuclear antibody (ANA) testing was negative in 73% of all carriers. The five positive ANAs were of low titre (maximum 1 : 320 on Hep 2 cells in two women) and only one weak positive double-stranded DNA antibody and no extractable nuclear antibodies were found. Several of the mothers, despite negative serology, benefited from referral to a specialist, and in some cases to specific treatment. A history of skin rashes, joint pain, fatigue and mouth ulcers should be sought actively in the female relatives of X-CGD patients but negative lupus serology should not preclude referral to appropriate dermatology or rheumatology services. as symptoms may respond well to appropriate treatment.