NEW DRUG THERAPY IN TREATMENT OF NEPHROPATHIC CYSTINOSIS

胱氨酸病是一种遗传性疾病，以肾小管为特征。 婴儿期Fanconi综合征，继之进行性肾小球损害 需要在10岁前进行透析和移植。在几个 其他临床表现为严重的生长迟缓。胱氨酸病是 用半胱氨酸耗尽硫醇，半胱胺治疗，除了 辅助其他器官，也能促进生长。然而，大多数患有这种疾病的儿童 胱氨酸病仍然保持在身高的第三个百分位数以下。儿童 然而，患有胱氨酸病的人并不是生长激素缺乏的人，初步数据 对年龄较大的儿童的影响表明，每天注射生长激素会 刺激增长。尽管增长有所改善，但也有证据表明 这些年龄较大的儿童的肾小球功能可能会随着他们的经历而下降 增长速度加快。这项临床试验的设计是为了确定 生长激素会显著加快生长速度，而不需要 对胱氨酸病患者肾小球功能的不良影响。 大约30名患者将接受生长激素治疗，15名患者将接受治疗 作为非安慰剂对照组，为期24个月。

Cystinosis is a genetic disease which characterized by the renal tubular Fanconi syndrome in infancy, followed by progressive glomerular damage requiring dialysis and transplantation by 10 years of age. Among several other clinical manifestations is severe growth retardation. Cystinosis is treated with a cystine depleting thiol, cysteamine, which in addition to aiding other organs, also increases growth. However, most children with cystinosis still remain well below the 3rd percentile for height. Children with cystinosis are not growth hormone deficient, however, preliminary data in older children show that daily injections of growth hormone does stimulate growth. Though growth improves, there is also evidence that glomerular function may decrease in these older children as they experience increased growth. The design of this clinical trial is to determine if growth hormone will significantly increase growth velocity without having an adverse effect on glomerular function in cystinosis patients. Approximately 30 patients will receive growth hormone and 15 patients will serve as non-placebo controls for 24 months.