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[眼褐黄病。病例报告]

[Ocular ochronosis. A case report].

作者信息

Ben Rayana N, Chahed N, Khochtali S, Ghorbel M, Hamdi R, Rouis M, Bouajina I, Hamida F Ben Hadj

机构信息

Service d'Ophtalmologie, Centre Hospitalo-Universitaire Farhat Hached, Sousse, Tunisie.

出版信息

J Fr Ophtalmol. 2008 Jun;31(6 Pt 1):624.

Abstract

Ochronosis or alkaptonuria is a rare inherited disease. It is characterized by the deposition of dark pigments in collagen-rich tissues, which leads to clinical manifestations such as arthropathy. The ochronotic pigment can be found in the sclera, the conjunctiva, and the limbic cornea. Vision is usually not affected. We report the case of 47-year-old patient who complained of lower back pain. Ophthalmologic examination showed dark pigments in the conjunctiva. The increased levels of homogentisic acid in urine confirmed the diagnosis of ochronosis.

摘要

褐黄病或尿黑酸尿症是一种罕见的遗传性疾病。其特征是深色色素在富含胶原蛋白的组织中沉积,从而导致诸如关节病等临床表现。褐黄病色素可见于巩膜、结膜和角膜缘。视力通常不受影响。我们报告一例47岁患者,该患者主诉下背部疼痛。眼科检查发现结膜有深色色素。尿中尿黑酸水平升高证实了褐黄病的诊断。

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