[一例疑似“青少年型”胱氨酸病病例]
[A presumed case of "adolescent" cystinosis].
作者信息
Nakano H, Yamakura Y, Aoyagi K
机构信息
Department of Ophthalmology, University of Tsukuba, Japan.
出版信息
Nippon Ganka Gakkai Zasshi. 1993 Apr;97(4):538-43.
A 30-year-old female patient was presumed to have adolescent cystinosis because of the onset of glomerular nephritis in her twenties, and the absence of retardation of somatic growth, rickets, or retinopathy. Specular microscopy revealed fine needle-shaped and/or rectangular crystals in the corneal stroma. The crystals were birefringent hexagonal and/or rectangular in the conjunctival tissue. The cystine contents of conjunctival biopsies in the patient were 8.6-11.0 nmol/ml (assayed by high performance liquid chromatography.
一名30岁女性患者因20多岁时出现肾小球肾炎，且无身体生长发育迟缓、佝偻病或视网膜病变，被推测患有青少年胱氨酸病。镜面显微镜检查发现角膜基质中有细针状和/或长方形晶体。这些晶体在结膜组织中为双折射六边形和/或长方形。该患者结膜活检的胱氨酸含量为8.6 - 11.0 nmol/ml（通过高效液相色谱法测定）。
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