Gahl W A, Thoene J G, Schneider J A, O'Regan S, Kaiser-Kupfer M I, Kuwabara T
Ann Intern Med. 1988 Oct 1;109(7):557-69. doi: 10.7326/0003-4819-109-7-557.
To review the history, basic defect, pathogenesis, clinical manifestations, diagnosis, and treatment of nephropathic cystinosis.
Lysosomal membrane transport studies, clinical reports, and a historically controlled 7-year trial of oral cysteamine therapy.
University centers in the United States and Canada.
One hundred forty-eight children, aged 0 to 12, with nephropathic cystinosis before renal transplant, who had renal tubular Fanconi syndrome, failure to grow, corneal cystine crystals, and elevated leukocyte cystine; 34 patients, aged 9 to 29, after transplant, some with visual impairment, corneal erosions, pancreatic dysfunction, or neurologic deterioration.
Before transplant, replacement of renal losses, and treatment with oral cysteamine (55 mg/kg body weight.d for 1 to 6 years) and topical cysteamine eyedrops (0.1%, 1 drop/h while awake, for 6 months). After transplant, oral cysteamine and symptomatic treatment of late complications.
Untreated patients reached renal failure at age 10. Oral cysteamine lowered leukocyte cystine over 80%, and in patients before transplant, improved growth and preserved renal function (mean creatinine clearance [+/- SE], 0.64 +/- 0.04 mL/s.1.73 m2 [38.5 +/- 2.5 mL/min.1.73 m2] in the cysteamine group compared with 0.50 +/- 0.03 mL/s.1.73 m2 [29.7 +/- 2.0 mL/min.1.73 m2] in controls; 95% CI for the difference, 1.8 to 15.8). Cysteamine eyedrops cleared the corneal crystals of two children less than 2 years old.
Cystinosis is a lysosomal storage disease due to impaired transport of cystine out of lysosomes. In young children, growth can be improved and renal deterioration delayed or prevented by oral cysteamine. Nonrenal complications after transplant might be prevented with long-term oral cysteamine.
回顾肾病性胱氨酸病的历史、基本缺陷、发病机制、临床表现、诊断及治疗。
溶酶体膜转运研究、临床报告以及口服半胱胺治疗的一项历时7年的历史性对照试验。
美国和加拿大的大学中心。
148名0至12岁肾移植前患有肾病性胱氨酸病的儿童，他们患有肾小管性范科尼综合征、生长发育迟缓、角膜胱氨酸结晶以及白细胞胱氨酸水平升高；34名9至29岁肾移植后的患者，部分有视力损害、角膜糜烂、胰腺功能障碍或神经功能恶化。
移植前，补充肾脏丢失的物质，并口服半胱胺（55毫克/千克体重·天，持续1至6年）以及局部使用半胱胺眼药水（0.1%，清醒时每小时1滴，持续6个月）进行治疗。移植后，口服半胱胺并对晚期并发症进行对症治疗。
未经治疗的患者10岁时会发展为肾衰竭。口服半胱胺可使白细胞胱氨酸水平降低80%以上，对于移植前的患者，可促进生长并保留肾功能（半胱胺组平均肌酐清除率[±标准误]为0.64±0.04毫升/秒·1.73平方米[38.5±2.5毫升/分钟·1.73平方米]，而对照组为0.50±0.03毫升/秒·1.73平方米[29.7±2.0毫升/分钟·1.73平方米]；差异的95%置信区间为1.8至15.8）。半胱胺眼药水使两名2岁以下儿童的角膜结晶消失。
胱氨酸病是一种由于胱氨酸从溶酶体转运受损导致的溶酶体贮积病。对于幼儿，口服半胱胺可促进生长并延缓或预防肾脏恶化。长期口服半胱胺可能预防移植后的非肾脏并发症。
