Schwarz R E, Dralle H, Linke R P, Nathrath W B, Neumann K H
Department für Addominal und Transplantationschirurgie, Medizinische Hochschule Hannover, F.R. Germany.
Am J Clin Pathol. 1989 Dec;92(6):821-5. doi: 10.1093/ajcp/92.6.821.
A case of hereditary AA amyloidosis with Muckle-Wells syndrome is described. After a successful kidney transplantation for chronic renal failure due to renal amyloid deposits at age 21, the patient, a white female now 26 years of age, developed a large amyloid goiter as a manifestation of the systemic amyloidosis and recurrent monarthritides. Both observations are novel for this disease. Subtotal thyroidectomy and oral colchicine administration, known to be effective in preventing complications of familial Mediterranean fever, another hereditary type of AA amyloidosis, proved highly effective in the management of this unusual case.
本文描述了一例伴有穆克-韦尔斯综合征的遗传性AA型淀粉样变性病例。该患者为白人女性，21岁时因肾淀粉样沉积导致慢性肾衰竭，成功接受了肾移植手术。如今患者26岁，出现了巨大的淀粉样甲状腺肿，这是系统性淀粉样变性的一种表现，同时还伴有复发性单关节炎。这两种表现对于该疾病来说都是新发现。甲状腺次全切除术和口服秋水仙碱，已知对预防家族性地中海热（另一种遗传性AA型淀粉样变性）的并发症有效，事实证明对该罕见病例的治疗非常有效。
