A DOUBLE-MASKED CONTROLLED RANDOMIZED CLINICAL TRIAL OF TOPICAL CYSTEAMINE

肾病综合征是一种常染色体隐性遗传性储存症。 非蛋白胱氨酸在细胞溶酶体内积聚的疾病 由于溶酶体的半胱氨酸运输存在缺陷。眼部表现 包括角膜、结膜虹膜和结膜中畏光晶体沉积 视网膜色素脱失。全身并发症包括范可尼 综合症和肾功能衰竭。 八年前，半胱胺，一种从细胞中耗尽半胱氨酸的游离硫醇， 被引入到膀胱虫病患者的治疗中。虽然病人 已经改善了生长和稳定了肾功能，没有明显的 对角膜晶体堆积的影响。最近的研究表明， 在组织培养的角膜细胞中，胱氨酸很容易被 半胱胺的引入，使眼科外用成为可能 半胱胺来绕过体液路线。经过适当的动物 测试并发症的研究没有发现任何并发症，我们已经开始了 局部应用半胱胺的双盲临床试验 人类。到目前为止，已有5名患者入选，研究结果 等待进一步的观察。

Nephropathic cystinosis is an autosomal, recessively inherited storage disease in which nonprotein cystine accumulates within cellular lysosomes due to a defect in lysosomal cystine transport. Ocular manifestations include photophobia crystal deposits in cornea, conjunctiva iris and depigmentation of the retina. Systemic complications include the Fanconi syndrome, and renal failure. Eight years ago cysteamine, a free thiol which depletes cystine from cells, was introduced in the therapy of cystinotic patients. Although patients had improved growth and stabilized renal function, there was no noticeable effect on the accumulation of corneal crystals. Recent studies showed that corneal cells in tissue culture are readily depleted of cystine by the introduction of cysteamine, making feasible the use of topical ophthalmic cysteamine to circumvent the humoral route. After appropriate animal studies to test for complications which revealed none, we have begun a double-masked clinical trial to test the efficacy of topical cysteamine in humans. Five patients have thus far been enrolled, outcome of the study awaits further observation.