一个四代家族中与胱氨酸尿症、鱼鳞病和口疮病相关的常染色体显性遗传性穆克-韦尔斯综合征。
Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family.
作者信息
Berthelot J M, Maugars Y, Robillard N, Pascal O, Stalder J F, David A, Prost A
机构信息
Department of Rheumatology, Nantes University Hospital, France.
出版信息
Am J Med Genet. 1994 Oct 15;53(1):72-4. doi: 10.1002/ajmg.1320530115.
Muckle-Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation, and secondary amyloidosis (AA type). We report on a 4-generation family with 7 persons sharing various signs of this syndrome associated with bipolar aphthosis in 5 cases and cystinuria in one. Two other relatives in the family had ichthyosis.
穆克勒-韦尔斯综合征是一种罕见的常染色体显性疾病，其特征为慢性复发性荨麻疹、周期性关节炎、感音神经性耳聋、全身炎症体征以及继发性淀粉样变性（AA型）。我们报告了一个四代家族，其中7人有该综合征的各种体征，5例伴有双相性口疮病，1例伴有胱氨酸尿症。该家族中的另外两名亲属患有鱼鳞病。
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