Bluish gray discoloration and arthropathy:: A case report of alkaptonuria

被引:0
|
作者
Can, Burce [1 ]
Zindanci, Ilkin [1 ]
Kavala, Mukaddes [1 ]
Koc, Melek [1 ]
Bayraktaroglu, Yasin [1 ]
机构
[1] Dermatol Klin, Goztepe Egitim & Arastirma Hastanesi, Istanbul, Turkey
来源
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI | 2008年 / 28卷 / 05期
关键词
homogentisic acid; alkaptonuria; ochronosis;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Alkaptonuria is a rare metabolic disorder caused by a deficiency in homogentisic acid oxidase. This deficiency results in accumulation and deposition of homogentisic acid especially in the connective tissue. The cardinal clinical features of the disorder include urine that turns dare on standing, pigmentation of cartilage and other connective tissues and the development in later years of arthritis, which clinically can resemble rheumatoid arthritis but radiographically is similar to osteoarthritis. Diagnosis of alkaptonuria can be confirmed by Urine organic acid analysis. There is no definitive treatment although administration of 1g/day of ascorbic acid in divided doses may be beneficial. We report a 56-year-old woman who presented with severe arthropathy and ochronotic pigment deposited in cartilage of the ear
引用
收藏
页码:769 / 772
页数:4
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