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[间歇性风湿病揭示一种家族性综合征。关节炎——荨麻疹样皮疹——耳聋:无肾淀粉样变的穆克-韦尔斯综合征]

[Intermittent rheumatism revealing a familial syndrome. Arthritis--urticarian eruptions--deafness: Muckle-Wells syndrome without kidney amylosis].

作者信息

Prost A, Barrière H, Legent F, Cottin S, Wallez B

出版信息

Rev Rhum Mal Osteoartic. 1976 Mar;43(3):201-8.

PMID:1083554
Abstract

At a consultation with a 31-year-old man, motivated by painful episodes of joint pain that had started considerably earlier, a familial disease entity was discovered that included the three clinical signs of the Muckle and Wells syndrome : urticarial eruption, intermittent pain in the limbs originating in the joints, and bilateral deafness of perception. In spite of the absnece of renal amylosis, the similarity of the characteristics of these three elements, as well as the nature of the biochemical disturbances, and the mode of transmission, led the authors to consider these observations in the contest of this syndrome. The joint manifestations being indicative, the signs of this intermittent rheumatism are described, as well as the characteristics of the other disorders.

摘要

在对一名31岁男性进行会诊时,鉴于其关节疼痛发作较早且疼痛难忍,发现了一种家族性疾病实体,其中包括麦克尔和韦尔斯综合征的三个临床症状:荨麻疹样皮疹、源于关节的四肢间歇性疼痛以及双侧感音神经性耳聋。尽管没有肾淀粉样变,但这三个症状的特征相似,以及生化紊乱的性质和传播方式,促使作者在该综合征的背景下考虑这些观察结果。鉴于关节表现具有指示性,描述了这种间歇性风湿病的症状以及其他病症的特征。

相似文献

1
[Intermittent rheumatism revealing a familial syndrome. Arthritis--urticarian eruptions--deafness: Muckle-Wells syndrome without kidney amylosis].[间歇性风湿病揭示一种家族性综合征。关节炎——荨麻疹样皮疹——耳聋:无肾淀粉样变的穆克-韦尔斯综合征]
Rev Rhum Mal Osteoartic. 1976 Mar;43(3):201-8.
2
[Muckle-Wells syndrome: 4 cases in three generations].
Ann Dermatol Venereol. 2000 Oct;127(10):822-4.
3
[Muckle-Wells syndrome or association of joint pain attacks, urticarial outbreaks and sensory deafness?].[穆克-韦尔斯综合征还是关节疼痛发作、荨麻疹爆发和感觉神经性耳聋的关联?]
Rev Rhum Mal Osteoartic. 1987 Feb;54(2):105-8.
4
[Muckle-Wells syndrome].[穆克-韦尔斯综合征]
Ann Dermatol Venereol. 1977 Oct;104(10):664-6.
5
[Mückle-Wells syndrome. 5th familial case].[穆克勒-韦尔斯综合征。第5例家族性病例]
Nouv Presse Med. 1972 Sep 30;1(34):2223-6.
6
[Muckle-Wells syndrome: a new familial case. Demonstration of abnormalities of lymphocyte subpopulations].
Ann Dermatol Venereol. 1989;116(11):827-9.
7
[Deafness in the Muckle-Wells syndrome].[穆克-韦尔斯综合征中的耳聋]
Ann Otolaryngol Chir Cervicofac. 1976 Jun;93(6):355-65.
8
[Muckle-Welles syndrome (urticaria, deafness and amyloidosis). A new familial case].[穆克-韦尔斯综合征(荨麻疹、耳聋和淀粉样变性)。1例新的家族性病例]
Med Clin (Barc). 1988 Apr 2;90(13):542-4.
9
Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred.穆克-韦尔斯综合征:在一个大家族中与冷空气性荨麻疹相符的临床及组织学皮肤表现。
Br J Dermatol. 2004 Jul;151(1):99-104. doi: 10.1111/j.1365-2133.2004.06001.x.
10
[Deafness, urticaria, arthritis, hypogonadism and renal insufficiency (syndrome of Muckle and Wells) (author's transl)].耳聋、荨麻疹、关节炎、性腺功能减退和肾功能不全(穆克-韦尔斯综合征)(作者译)
Schweiz Rundsch Med Prax. 1974 May 28;63(21):651-9.

引用本文的文献

1
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.
2
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.穆克-韦尔斯综合征与1号染色体q44区域的基因连锁。
Am J Hum Genet. 1999 Oct;65(4):1054-9. doi: 10.1086/302589.