A probable case of Muckle-Wells syndrome
A probable case of Muckle-Wells syndrome
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DOI：
10.1111/j.1346-8138.2006.00025.x
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发表时间：
2006-02-01
影响因子：
3.1
通讯作者：
Tamaki, Kunihiko
中科院分区：
文献类型：
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作者：
Kagami, Shinji;Saeki, Hidehisa;Tamaki, Kunihiko
Muckle-Wells综合征是一种罕见的常染色体显性遗传病，属于周期性发热综合征组。该病的三个主要特征是：(I)麻风样皮疹；(Ii)进行性感觉性耳聋；(Iii)淀粉样肾病。一名26岁的日本妇女出生时就出现了麻风皮疹和发烧。发烧经常伴随着寒战和模糊的不适。没有风疹或发烧的家族病史。虽然她没有意识到听力损失，但听力测试显示她患有感觉性耳聋。她也有肝脾肿大和高免疫球蛋白血症，但没有持续性关节炎，也没有任何神经或胃肠道疾病。未观察到生长迟缓。她臀部的皮肤活检标本显示，乳头状真皮中有稀疏的中性粒细胞在血管周围和间质中渗透。确诊为周期性发热综合征。虽然未发现淀粉样肾病，也未检测到CIAS1(T785C、C778T G907A、G1315A、G1075C)基因突变，但Muckle-Wells综合征是最有可能的。我们用强的松龙治疗她，但有部分效果。以前用秋水仙素、抗组胺药、氨苯松、克拉霉素、盐酸二甲胺四环素和洛索洛芬钠治疗都不成功。Muckle-Wells综合征可能会在很多年内被漏诊，或者被误诊为顽固性荨麻疹。因此，当我们看到顽固性荨麻疹和发作性发热的患者时，我们应该考虑到周期性发热综合征的可能性。
Muckle-Wells syndrome is a rare autosomally dominant disorder belonging to the group of periodic fever syndromes. Three main features of the disease are: (i) urticarial eruptions; (ii) progressive perceptive deafness; and (iii) amyloid nephropathy. A 26-year-old Japanese woman had suffered at birth from an urticarial rash and episodic fever. The fever was frequently associated with chills and ill-defined malaise. There was no familial history of urticarial rash or fever. Although she did not recognize hearing loss, audiometry revealed perceptive deafness. She also had hepatosplenomegaly and hyperimmunoglobulinemia, but did not have persistent arthritis, or any neurological or gastrointestinal disorder. No growth retardation was observed. Skin biopsy specimens from her buttock showed a sparse perivascular and interstitial infiltrate of neutrophils in the papillary dermis. Periodic fever syndrome was diagnosed. Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene mutations of CIAS1 (T785C, C778T G907A, G1315A, G1075C) were detected. We treated her with prednisolone, which had a partial effect. Previous treatment with colchicines, antihistamines, dapsone, clarithromycin, minocycline hydrochloride and loxoprofen sodium had been unsuccessful. Muckle-Wells syndrome may go undiagnosed for many years or be misdiagnosed as refractory urticaria. Therefore, we should consider the possibility of periodic fever syndrome when we see patients with refractory urticaria and episodic fever.