成人胱氨酸病。病例报告。

Adult cystinosis. A case report.

作者信息

Dodd M J, Pusin S M, Green W R

出版信息

Arch Ophthalmol. 1978 Jun;96(6):1054-7. doi: 10.1001/archopht.1978.03910050574017.

DOI:10.1001/archopht.1978.03910050574017

Abstract

A 41-year-old man, referred because of the suspicion of retinal detachment, was found to have retinoschisis, moderately severe renal disease, and adult cystinosis with crystals in the cornea and conjunctiva. Conjunctival crystals were demonstrated by light and electron microscopy, and chemical analysis confirmed the presence of excessive amounts of cystine. Studies of renal tissue showed changes that were interpreted as being due to hypertensive vascular disease. Light and electron microscopic examination of kidney tissue showed no cystine crystals, and chemical analysis indicated only trace amounts of cystine.

摘要

一名41岁男性因疑似视网膜脱离前来就诊，检查发现患有视网膜劈裂症、中度严重肾病以及伴有角膜和结膜晶体的成人胱氨酸病。通过光学显微镜和电子显微镜证实了结膜晶体的存在，化学分析也证实存在过量的胱氨酸。肾脏组织研究显示的变化被解释为是由高血压性血管疾病引起的。肾脏组织的光学显微镜和电子显微镜检查未发现胱氨酸晶体，化学分析仅显示有微量胱氨酸。