一名中年女性的黑尿症
Alkaptonuria in a middle-aged female.
作者信息
Hosseinian Amiri Aref, Rafiei Alireza
机构信息
Department of Rheumatology, Imam Khomeini Hospital, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
出版信息
Caspian J Intern Med. 2012 Fall;3(4):554-6.
BACKGROUND
Alkaptonuria (AKU) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (HGD). The features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. In this paper, we present a case of alkaptonuria in a 54 year old woman in Tehran, Iran.
CASE PRESENTATION
A 54 year old woman with pain and limitation of motion in hip and lumbar spine was admitted in Firoozgar Hospital, Tehran. The problem began about 12 years ago with a history of darkening of urine and discoloration of sclera and ears. In imaging studies, there were degenerative changes in spine. In urine examination, the darkening of urine after exposure to air or bicarbonate found. Alkaptouria was confirmed by demonstrating an increased homogentisic acid (HGA) in urine. Her sister had back pain for a long period of time without response to therapy. She was subsequently diagnosed with alkaptonuria.
CONCLUSION
Alkaptonuria must be considered in the evaluation of low back pain of patients especially with having a positive family history and bluish discoloration of cartilage tissues.
背景
黑尿症（AKU）或褐黄病是一种罕见的进行性退行性关节病，由尿黑酸1,2双加氧酶（HGD）缺乏引起。其特征包括脊柱和较大外周关节的关节炎以及软骨钙质沉着症。在本文中，我们报告了一例伊朗德黑兰一名54岁女性的黑尿症病例。
病例介绍
一名54岁女性因髋部和腰椎疼痛及活动受限入住德黑兰菲罗兹加尔医院。该问题始于约12年前，有尿液变黑、巩膜和耳朵变色的病史。影像学检查显示脊柱有退行性改变。尿液检查发现尿液暴露于空气或碳酸氢盐后变黑。通过证明尿液中尿黑酸（HGA）增加确诊为黑尿症。她的姐姐长期背痛，治疗无效。随后她被诊断为黑尿症。
结论
在评估患者腰痛时，尤其是有阳性家族史和软骨组织蓝染的患者，必须考虑黑尿症。
Zotero 插件