Vernerová Z, Rychlík I, Brunerová L, Dvoráková L, Pavelková A, Sebesta I
Department of Pathology, 3rd Faculty of Medicine, Charles University, Prague, Czech Republic.
Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1305-8. doi: 10.1080/15257770600893941.
AA amyloidosis caused by the chronic inflammation accompanying gouty arthritis is extremely rare and familial occurrence has not been described so far.
We present the case of two brothers (47 and 44 years old) with 7- and 10-year history of hyperuricaemia and chronic tophaceous gout with polyarticular involvement. The enzymatic assay performed in their erythrocytes proved the partial hypoxanthine-guanine phosphoribosyl transferase deficiency (Kelley-Seegmiller syndrome), the genetic defect of purine metabolism. Later on they developed proteinuria and chronic renal insufficiency /CRI/. Renal biopsy disclosed the combination of AA amyloidosis and gouty nephropathy in both the cases. Despite the standard treatment the older brother progressed to chronic renal failure. On the contrary, the younger one being longterm treated with oral colchicin have stabilized CRI.
Only several cases of AA renal amyloidosis until recently, secondary to gout have been reported. Our case represents the first report of familial occurrence of this extremely rare disease.
痛风性关节炎伴发的慢性炎症所致的AA型淀粉样变性极为罕见，迄今为止尚未见家族性发病的报道。
我们报告了一对兄弟（分别为47岁和44岁）的病例，他们有7年和10年的高尿酸血症病史以及慢性痛风石性痛风伴多关节受累。对他们红细胞进行的酶分析证实存在部分次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏（凯利 - 西格米勒综合征），这是嘌呤代谢的遗传缺陷。后来他们出现蛋白尿和慢性肾功能不全（CRI）。肾活检显示两例均为AA型淀粉样变性和痛风性肾病并存。尽管进行了标准治疗，哥哥仍进展为慢性肾衰竭。相反，弟弟长期口服秋水仙碱治疗，慢性肾功能不全病情得以稳定。
直到最近，仅有几例继发于痛风的AA型肾淀粉样变性的病例报道。我们的病例是这种极为罕见疾病家族性发病的首例报告。
