Does allopurinol affect the progression of familial juvenile gouty nephropathy?
Does allopurinol affect the progression of familial juvenile gouty nephropathy?
复制标题
别嘌呤醇会影响家族性青少年痛风性肾病的进展吗？
DOI：
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发表时间：
1991
影响因子：
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通讯作者：
P. Davis
中科院分区：
文献类型：
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作者：
F. Moro;H. Simmonds;J. Cameron;C. Ogg;G. Williams;M. B. McBride;P. Davis
家族性青少年痛风性肾病（FJGN，McKusick 16200）首先由 Duncan 和 Dixon 描述 (1)，是一种常染色体显性遗传疾病，具有高外显率和特征性特征。它影响出现早期进行性肾功能障碍的年轻人亚群。一个常见的特征是与年龄、性别和肾功能衰竭程度不成比例的高尿酸血症。生化缺陷的性质仍然未知，并且对于尿酸盐的肾小管处理异常是否会导致损伤 (2, 3)，或者高尿酸血症的治疗是否会影响疾病的演变 (2, 4) 存在争议。从组织学角度来看，非特异性间质性肾炎 (NSIN) 通常没有明显的尿酸钠沉积 (1,2,3)。
Familial juvenile gouty nephropathy (FJGN, McKusick 16200) first described by Duncan and Dixon (1), is an autosomal dominant condition with high penetrance and characteristic features. It affects a sub-group of young people who develop early progressive renal dysfunction. A common hallmark is hyperuricaemia disproportionate to age, sex and degree of renal failure. The nature of the biochemical defect remains unknown and there is debate as to whether the abnormal tubular handling of urate causes the damage (2, 3), or if the treatment for the hyperuricaemia affects the evolution of the disease (2, 4). Histologically, a non specific interstitial nephritis (NSIN) is usually seen without evident deposits of sodium urate (1, 2, 3).