COMPASSIONATE USE OF CYSTEAMINE IN NEPHROPATHIC CYSTENOSIS

肾病型胱氨酸病是一种具有多种临床表现的遗传性疾病，包括范可尼综合征和进行性肾衰竭。在过去的十年里，半胱胺和磷酸半胱胺作为孤儿药被开发出来。这些化合物现在已被发现对降低胱氨酸病的进展速度有效。然而，每日多次服药和定期监测白细胞胱氨酸水平对最佳结果至关重要。处理血液标本的白细胞胱氨酸水平是非常繁琐和耗时的。在某种程度上，GCRC的参与和协助获得可靠的白细胞胱氨酸水平是必要的。一名患者已被纳入这项人道使用方案。目前，没有进一步招生的计划。接受治疗的患者白细胞胱氨酸水平显著降低，现在白细胞胱氨酸水平在正常杂合子范围内。因此，我们完全相信这种药物会对她有明显的好处。她对药物的耐受性很好，没有任何不良反应。

Nephropathic cystinosis is an inherited disease with multiple clinical manifestations including Fanconi's syndrome and progressive kidney failure. Within the past decade, cysteamine and phosphocysteamine were developed as orphan drugs. These compounds have now been found to be effective in reducing the rate of progression of cystinosis. However, multiple daily doses of medication and regular monitoring of white blood cell cystine levels are essential to optimal outcomes. Processing of blood specimens for white blood cell cystine levels is very cumbersome and time consuming. This to the extent that GCRC participation and assistance with obtaining reliable white blood cell cystine levels has been necessary. A single patient has been enrolled in this compassionate use protocol. At present, there are no plans for enrollment of further subjects. The patient treated has had an impressive reduction in white blood cell cystine levels, and now has a white blood cell cystine level that is within the normal heterozygote range. Thus, we have every expectation that the medication will be of clear benefit to her. She has tolerated the medication well and without any adverse reactions.