Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
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DOI：
10.1023/a:1005374027693
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发表时间：
1998-06-01
影响因子：
4.2
通讯作者：
Matsuda, I
中科院分区：
文献类型：
--
作者：
Uchino, T;Endo, F;Matsuda, I
在日本，尿素循环障碍（UCDs）是最常见的先天性代谢错误之一，估计每5万活产婴儿中就有1例。为了开发更有效的治疗方法，提高患者的生活质量，我们对1978年至1995年间诊断和治疗的216例ucd患者的临床表现和预后进行了研究。其中92例为新生儿性UCD， 116例为晚发型UCD。前瞻性诊断2例男性鸟氨酸转氨基甲酰基酶（OTC）缺乏，2例精氨酸琥珀酸酶（AL）缺乏。到目前为止，最常见的疾病是OTC缺乏症，占所有病例的2/3。1995年底，新生儿发病型的5年生存率为22%，晚发病型为41%。在20例新生儿起病UCD的长期幸存者中，18例（90%）有中度至重度神经发育缺陷；这与47例迟发型幸存者中的13例（28%）形成对比。在分析108例UCD病例时，首次高氨血症发作时血氨峰值水平与神经发育结局相关。血氨浓度低于180 μ mol/L（正常的5倍）时，未见严重神经损伤。首次高氨血症发作时血氨浓度超过350 μ mol/L（正常值的10倍）时，患者死亡或出现严重的神经功能缺损。我们的数据表明早期诊断和积极治疗的重要性。
In Japan, urea cycle disorders (UCDs) are one of the most frequent inborn errors of metabolism, estimated to have a prevalence of 1 per 50000 live births. In an attempt to develop more effective treatment and enhance the quality of life, we investigated the clinical manifestations and prognosis of 216 patients with UCDs diagnosed and treated between 1978 and 1995. These included 92 cases of neonatal-onset UCD and 116 of late-onset UCD. Two cases of ornithine transcarbamylase (OTC) deficiency in males and 2 cases of argininosuccinase (AL) deficiency were diagnosed prospectively. By far the most common disorder was OTC deficiency, accounting for 2/3 of all cases. At the end of 1995, the 5-year survival rate was 22% for the neonatal-onset type and 41% for the late-onset type. Among the 20 long-term survivors with neonatal-onset UCD, 18 (90%) had moderate to severe neurodevelopmental deficits; this contrasts with 13 of 47 (28%) survivors with the late-onset type. In analysing 108 UCD cases, peak blood ammonia level during the first hyperammonaemic attack was correlated with neurodevelopmental outcome. When the concentration of blood ammonia was less than 180 mu mol/L (5 times normal), there was no severe neurological damage. When the concentration of blood ammonia exceeded 350 mu mol/L (10 times normal) at the first hyperammonaemic attack, the patients died or had severe neurological deficits. Our data point to the importance of early diagnosis and aggressive treatment.