Long-term outcome and intervention of urea cycle disorders in Japan
Long-term outcome and intervention of urea cycle disorders in Japan
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DOI：
10.1007/s10545-011-9427-0
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发表时间：
2012-09-01
影响因子：
4.2
通讯作者：
Endo, Fumio
中科院分区：
文献类型：
--
作者：
Kido, Jun;Nakamura, Kimitoshi;Endo, Fumio
尿素循环障碍 (UCD) 是日本最常见的遗传性代谢疾病之一，估计每 50,000 名活产儿中就有 1 人患有尿素循环障碍。在这里，我们调查了1999年1月至2009年3月期间评估和治疗的177例UCD患者的临床表现、治疗和预后。其中包括77例新生儿发病UCD和91例迟发性UCD。最常见的 UCD 是鸟氨酸转氨甲酰酶缺乏症 (OTCD)，在 177 名患者中占 116 名。这一结果与 1978 年至 1995 年在日本进行的一项研究类似：OTCD 约占 UCD 病例总数的三分之二。我们研究了 151 名 UCD 患者的预后与发病时血氨峰值水平之间的关系。与之前在日本进行的调查相比，我们发现，尽管血氨峰值水平超过360μmol/l，但仍存活下来且没有任何智力障碍的患者数量较多。 OTCD 新生儿发病型患者的 5 年生存率提高至 86%，晚发型患者的 5 年生存率提高至 92%。我们假设生存率的提高是由于日本现在可以进行早期诊断和更好的治疗。当患者血氨水平较低时，UCD，尤其是OTCD的诊断和治疗非常重要。血氨水平低的患者的预后优于血氨水平高的患者。
Urea cycle disorders (UCDs) are one of the most frequently inherited metabolic diseases in Japan, with an estimated prevalence of 1 per 50,000 live births. Here, we investigated the clinical manifestations, treatment, and prognosis of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009. These included 77 cases of neonatal-onset UCDs and 91 cases of late-onset UCDs. The most common UCD was ornithine transcarbamylase deficiency (OTCD), which accounted for 116 out of 177 patients. This result is similar to a previous study performed between 1978 and 1995 in Japan: OTCD accounted for about two-thirds of the total number of UCD cases. We studied the relationship between prognosis and the peak blood ammonia level at the onset in 151 UCD patients. Compared with a previous survey conducted in Japan, we found that a greater number of patients survived without any mental retardation despite their peak blood ammonia levels being greater than 360 mu mol/l. The 5-year survival rate of patients with OTCD improved to 86% for those with the neonatal-onset type and to 92% for those with the late-onset type. We hypothesize that the increased survival rate is due to early diagnosis and better treatments that are now available in Japan. It is very important to diagnose and treat UCDs, especially OTCD, when the blood ammonia levels in patients are low. The outcome in patients with low blood ammonia levels was better than that in patients with high blood ammonia levels.