A case of ochronosis:: upper extremity involvement
A case of ochronosis:: upper extremity involvement
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DOI：
10.1007/s002960100136
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发表时间：
2001-10-01
影响因子：
4
通讯作者：
Erdogan, C
中科院分区：
文献类型：
--
作者：
Sahin, G;Milcan, A;Erdogan, C
尿黑酸症是一种罕见的遗传性常染色体隐性遗传病，其中尿黑酸代谢缺陷导致称为褐变的组织色素沉着。尿白蛋白尿发生在约1/200，000的个体中。尿白蛋白本身是一种无症状的疾病。当色素沉积在软骨中时会出现临床症状[2]。退行性关节炎和椎关节强硬发生在后期[1]。我们不仅报告了腰椎的影像学和临床表现，而且还报告了手和肩关节的受累，这在褐变中很少见。
Alkaptonuria is a rare hereditary autosomal recessive disease in which a defect in the metabolism of homogentisic acid leads to pigmentation of the tissues termed ochronosis. Alkaptonuria occurs in about 1 in 200,000 individuals. Alkaptonuria itself is a symptomless condition. Clinical signs develop when pigment is deposited in cartilage [2]. Degenerative arthritis and spondylosis occur in the later stages [1].We report not only the radiologic and clinical findings of the lumbar spine but also the involvement of hand and shoulder joints, which is seen rarely in ochronosis.