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一种伴有CIAS1基因新突变且对阿那白滞素治疗有效的变异型穆克勒-韦尔斯综合征。

A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.

作者信息

Dalgic Buket, Egritas Odul, Sari Sinan, Cuisset Laurence

机构信息

Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey.

出版信息

Pediatr Nephrol. 2007 Sep;22(9):1391-4. doi: 10.1007/s00467-007-0500-8. Epub 2007 May 8.

DOI:10.1007/s00467-007-0500-8
PMID:17486372
Abstract

Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosis. Mutations in the CIAS1 gene have been reported in MWS. Interleukin 1B (IL-1B) probably plays a major role in the pathophysiology of the disease, and IL-1B blockade may be therapeutic for this syndrome. We report here a Turkish child with MWS treated with anakinra. A novel mutation (I480F) was identified in exon 3 of the CIAS1 gene in this patient. The resolution of inflammatory symptoms, normalization of serological values, and improvement in hearing was noted with anakinra treatment.

摘要

穆克-韦尔斯综合征（MWS）是自身炎症性疾病的一个亚型。其特征为反复出现的炎症危象，伴有发热、腹痛、持续性荨麻疹、关节痛、感音神经性耳聋，以及可能发展为多器官淀粉样A蛋白（AA）型淀粉样变性。已有报道称MWS患者存在CIAS1基因突变。白细胞介素1B（IL-1B）可能在该疾病的病理生理学中起主要作用，而阻断IL-1B可能对该综合征具有治疗作用。我们在此报告一名接受阿那白滞素治疗的土耳其MWS患儿。在该患者的CIAS1基因第3外显子中鉴定出一种新的突变（I480F）。使用阿那白滞素治疗后，炎症症状得到缓解，血清学指标恢复正常，听力也有所改善。

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本文引用的文献

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揭示抗白细胞介素-1 治疗在单基因和多因素自身炎症性疾病中的疗效、安全性和耐受性。
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Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature.一例 Anakinra 治疗的伴有严重 Muckle-Wells 综合征表型的儿童单侧感觉神经性听力损失患者的听力恢复：病例报告及文献复习。
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NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.NALP3形成一种白细胞介素-1β加工炎性小体，在穆克-韦尔斯自身炎症性疾病中其活性增加。
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Arthritis Rheum. 2002 Sep;46(9):2445-52. doi: 10.1002/art.10509.
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New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.导致穆克-韦尔斯综合征和家族性冷荨麻疹的CIAS1新突变：一种新突变是这两种综合征的基础。
Am J Hum Genet. 2002 Jun;70(6):1498-506. doi: 10.1086/340786. Epub 2002 Apr 25.