INTRAVENOUS CYSTEAMINE THERAPY FOR NEPHROPATHIC CYSTINOSIS
INTRAVENOUS CYSTEAMINE THERAPY FOR NEPHROPATHIC CYSTINOSIS
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DOI：
10.1203/00006450-199510000-00018
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发表时间：
1995-10-01
影响因子：
3.6
通讯作者：
TANGERMAN, A
中科院分区：
文献类型：
--
作者：
GAHL, WA;INGELFINGER, J;TANGERMAN, A
一名4岁男孩患有病因不明的肾病性胱氨酸病和胃肠道运动障碍，在10个月内接受静脉注射半胱胺治疗。在给予10 mg/kg半胱胺游离碱后30分钟，白细胞胱氨酸值从11.9 nmol半胱氨酸/mg蛋白质降至4.9 nmol半胱氨酸/mg蛋白质。当每6小时给予半胱胺时，在给药后5-7小时测量的白细胞胱氨酸浓度随着半胱胺剂量的增加而降低，直至17 mg/kg;在该剂量下，胱氨酸值为1.1 nmol半胱氨酸/mg蛋白质，或未处理值的9%。在过去的3年中，该患者每6小时经口给予约16 mg/kg/剂，达到了相似的白细胞胱氨酸清除，达到1.2 nmol半胱氨酸/mg蛋白质。在10 mg/kg剂量后30分钟，血浆半胱胺浓度为71 μ M;在高达20 mg/kg剂量后5-7分钟，浓度低于5 μ M。在开始静脉注射半胱胺治疗后，该男孩的呼吸和尿液中二甲硫醚升高，但在此之前没有。治疗开始后10个月，患者耐受250 mg（14 mg/kg），每8小时一次。这种治疗的不良反应包括嗜睡和增加恶心和呕吐时，每6小时一次的治疗计划是尝试。这项研究表明，通过中心静脉导管给予半胱胺可有效降低白细胞胱氨酸水平。
A 4-y-old boy with nephropathic cystinosis and gastrointestinal dysmotility of unknown etiology was treated with i.v. cysteamine over a period of 10 mo. Thirty minutes after a dose of 10 mg/kg cysteamine free base, the leukocyte cystine value had fallen from 11.9 to 4.9 nmol of half-cystine/mg of protein. When cysteamine was given every 6 h, the leukocyte cystine concentration, measured 5-7 h after a dose, decreased with increasing cysteamine doses up to 17 mg/kg; at this dose the cystine value was 1.1 nmol of half-cystine/mg of protein, or 9% of the untreated value. Oral administration of approximately 16 mg/kg per dose every 6 h to this patient over the previous 3 y achieved similar leukocyte cystine depletion, to 1.2 nmol of half-cystine/mg of protein. The plasma cysteamine concentration 30 min after a dose of 10 mg/kg was 71 mu M; 5-7 after a dose of up to 20 mg/kg, the concentration was below 5 mu M. Dimethylsulfide was elevated in the breath and urine of this boy after, but not before, the initiation of i.v. cysteamine therapy. Ten months after the start of therapy, the patient tolerated 250 mg (14 mg/kg) every 8 h. Adverse effects of this treatment included lethargy and increased nausea and vomiting when a schedule of therapy every 6 h was attempted. This investigation demonstrates that cysteamine given through a central venous catheter is effective in reducing leukocyte cystine levels.