NEUROLOGIC OUTCOME IN CHILDREN WITH INBORN-ERRORS OF UREA SYNTHESIS - OUTCOME OF UREA-CYCLE ENZYMOPATHIES
NEUROLOGIC OUTCOME IN CHILDREN WITH INBORN-ERRORS OF UREA SYNTHESIS - OUTCOME OF UREA-CYCLE ENZYMOPATHIES
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DOI：
10.1056/nejm198406073102304
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发表时间：
1984-01-01
影响因子：
158.5
通讯作者：
MELLITS, ED
中科院分区：
文献类型：
--
作者：
MSALL, M;BATSHAW, ML;MELLITS, ED
对26例先天性尿素合成缺陷的新生儿高氨性昏迷患儿进行了研究。92%的1年生存率与限氮治疗和刺激废氮排泄的替代途径相关。79%的儿童在12-74个月时有1种或多种发育障碍。平均智商为43 .+-。6. III期或IV期新生儿高氨性昏迷的持续时间与12个月时的智商呈显著负相关。（r =-0.72，P < 0.001），但在峰值铵水平（351-1800 μ M）和IQ之间没有。CT [计算机断层扫描]异常与高氨性昏迷持续时间（r = 0.85，P < 0.01）和同时发生的IQ（r =-0.75，P < 0.02）之间也有显著相关性。新生儿高氨性昏迷持续时间长与脑损伤和智力功能受损有关。这种结果可以通过早期诊断和治疗来预防。
Children (26) with inborn errors of urea synthesis who survived neonatal hyperammonemic coma were studied. There was a 92% 1-yr survival rate associated with nitrogen-restriction therapy and stimulation of alternative pathways of waste nitrogen excretion. Seventy-nine per cent of the children had 1 or more developmental disabilities at 12-74 mo. of age; the mean IQ was 43 .+-. 6. There was a significant negative linear correlation between duration of Stage III or IV neonatal hyperammonemic coma and IQ at 12 mo. (r = -0.72, P < 0.001) but not between the peak ammonium level (351-1800 .mu.M) and IQ. There was also a significant correlation between CT [computed tomography] abnormalities and duration of hyperammonemic coma (r = 0.85, P < 0.01) and between CT abnormalities and concurrent IQ (r = -0.75, P < 0.02). Prolonged neonatal hyperammonemic coma is associated with brain damage and impairment of intellectual function. This outcome may be prevented by early diagnosis and therapy.