Yudkoff M, Foreman J W, Segal S
N Engl J Med. 1981 Jan 15;304(3):141-5. doi: 10.1056/NEJM198101153040303.
We studied the effects of cysteamine in five children with nephropathic cystinosis who were treated for up to 30 months. Cysteamine caused a decline in leukocyte cystine levels to the range seen in clinically unaffected heterozygotes; both plasma and urinary cystine diminished by more than half. Therapy had no effect on progressively declining creatinine clearance in three patients, but improvement occurred in the other two. Phosphaturia, glycosuria, aminociduria, and organic aciduria did not improve in any of the patients. Both blood lactate and the lactate pyruvate ratio were diminished. Growth velocity, which was abnormal in four of the five children, did not improve. No major side effects were noted. Therapy with cysteamine caused a consistent, dose-related decline in levels of cystine in leukocytes and in extracellular fluid, caused no improvement so far in renal tubular function or growth velocity, and improved creatinine clearance in some patients.
我们研究了半胱胺对5名患有肾病性胱氨酸病的儿童的影响，这些儿童接受了长达30个月的治疗。半胱胺使白细胞胱氨酸水平降至临床未受影响的杂合子所见范围；血浆和尿胱氨酸均减少了一半以上。治疗对3例患者逐渐下降的肌酐清除率没有影响，但另外2例患者有所改善。所有患者的磷酸盐尿、糖尿、氨基酸尿和有机酸尿均未改善。血乳酸和乳酸/丙酮酸比值均降低。5名儿童中有4名生长速度异常，治疗后并未改善。未观察到重大副作用。半胱胺治疗导致白细胞和细胞外液中胱氨酸水平持续、与剂量相关的下降，迄今为止对肾小管功能或生长速度没有改善作用，但在一些患者中改善了肌酐清除率。
