Füger K, Fleischmann E, Weber M, Mann J
IV. Medizinische Klinik, Universität Erlangen-Nürnberg.
Dtsch Med Wochenschr. 1992 Feb 14;117(7):256-60. doi: 10.1055/s-2008-1062305.
A 35-year-old woman had since early childhood suffered from recurrent urticaria-like rash, intermittent fever, arthralgia and pancochlear inner-ear deafness. At the age of 17 years she also developed a steroid-resistant nephrotic syndrome, found to be due to renal amyloidosis (type AA). The triad of renal amyloidosis, inner-ear deafness and recurrent urticaria is characteristic of Muckle-Wells syndrome, which has a hereditary basis. Rapidly progressive renal failure necessitated long-term haemodialysis and two renal transplantations. The accompanying immunosuppressive treatment with corticosteroids, azathioprin and, later, cyclophosphamide brought about a remission of the joint and skin abnormalities. After removal of the first donor kidney and termination of immunosuppressive treatment the syndrome recurred with subacute growth of an amyloid goitre as well as amyloidosis of the optic nerve. A few weeks before death a malignant non-Hodgkin lymphoma of the stomach was demonstrated. It was presumably a complication of long-term immunosuppression and not of the Muckle-Wells syndrome. The patient died of the complications of combination chemotherapy. Necropsy revealed generalized amyloidosis.
一名35岁女性自幼患有反复发作的荨麻疹样皮疹、间歇性发热、关节痛和全耳蜗性内耳耳聋。17岁时，她还患上了对类固醇耐药的肾病综合征，经诊断是由肾淀粉样变性（AA型）引起的。肾淀粉样变性、内耳耳聋和反复发作的荨麻疹三联征是穆克-韦尔斯综合征的特征，该综合征有遗传基础。快速进展的肾衰竭需要长期血液透析和两次肾移植。随后使用皮质类固醇、硫唑嘌呤以及后来的环磷酰胺进行免疫抑制治疗，使关节和皮肤异常症状得到缓解。在切除第一个供体肾并终止免疫抑制治疗后，综合征复发，出现了亚急性生长的淀粉样甲状腺肿以及视神经淀粉样变性。在患者死亡前几周，发现了胃部恶性非霍奇金淋巴瘤。这可能是长期免疫抑制的并发症，而非穆克-韦尔斯综合征的并发症。患者死于联合化疗的并发症。尸检显示全身性淀粉样变性。
