Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment
Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment
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DOI：
10.1034/j.1600-0609.2003.00109.x
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发表时间：
2003-09-01
影响因子：
3.1
通讯作者：
Roesler, J
中科院分区：
文献类型：
--
作者：
Rösen-Wolff, A;Quietzsch, J;Roesler, J
慢性婴儿神经、皮肤、关节(CINCA)综合征的特征是发热、慢性脑膜炎、葡萄膜炎、感音神经性耳聋、麻风性皮疹和变形性关节炎。在许多但不是所有CINCA患者的CIAS1基因中，最近发现了与疾病相关的突变。我们在这里描述两名来自德国的这样的患者。其中一名3岁男孩有1709A-->；G，Y570C突变，此前曾被描述为导致CINCA综合征。他的临床病程非常严重，即使用大剂量的局部和全身类固醇治疗也没有取得令人满意的反应。另一名患者的临床病程较轻，使用中剂量和小剂量的类固醇可以显著改善病情。在她的CIAS1基因中，我们发现了一种1043C--&T，T348M突变，以前只在Muckle-Wells综合征中发现过。我们的结果表明，CINCA患者的症状严重程度可能受到CIAS1基因潜在突变的影响。此外，我们的观察结果支持这样的观点，即CINCA综合征和Muckle-Wells综合征本质上是同一种疾病，但严重程度不同。
Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is characterized by fever, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a deforming arthritis. In the CIAS1 gene of many but not all CINCA patients, disease-associated mutations have been found recently. We here describe two such patients from Germany. One of them, a 3-yr-old boy, has a 1709A --> G, Y570C, mutation, which has previously been described to cause CINCA syndrome. His clinical course is very severe and no satisfying response has been achieved even with high doses of local and systemic steroids. The other patient has a somewhat milder clinical course and considerable improvement could be accomplished with moderate and low doses of steroids. In her CIAS1 gene we have found a 1043C --> T, T348M, mutation, which has only been detected in Muckle-Wells syndrome before. Our results suggest that the severity of symptoms in CINCA patients may be influenced by the underlying mutation in the CIAS1 gene. Furthermore, our observations support the view that CINCA syndrome and Muckle-Wells syndrome are essentially the same disease with different degrees of severity.