Msall M, Batshaw M L, Suss R, Brusilow S W, Mellits E D
N Engl J Med. 1984 Jun 7;310(23):1500-5. doi: 10.1056/NEJM198406073102304.
We studied 26 children with inborn errors of urea synthesis who survived neonatal hyperammonemic coma. There was a 92 per cent one-year survival rate associated with nitrogen-restriction therapy and stimulation of alternative pathways of waste nitrogen excretion. Seventy-nine per cent of the children had one or more developmental disabilities at 12 to 74 months 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 months (r = -0.72, P less than 0.001) but not between the peak ammonium level (351 to 1800 microM) and IQ. There was also a significant correlation between CT abnormalities and duration of hyperammonemic coma (r = 0.85, P less than 0.01) and between CT abnormalities and concurrent IQ (r = -0.75, P less than 0.02). These results suggest that prolonged neonatal hyperammonemic coma is associated with brain damage and impairment of intellectual function. This outcome may be prevented by early diagnosis and therapy.
我们研究了26名尿素合成先天性缺陷且在新生儿高氨血症昏迷中存活下来的儿童。氮限制疗法以及刺激废氮排泄的替代途径使一年生存率达到了92%。79%的儿童在12至74个月大时出现了一种或多种发育障碍；平均智商为43±6。新生儿III期或IV期高氨血症昏迷的持续时间与12个月时的智商之间存在显著的负线性相关性（r = -0.72，P < 0.001），但最高血氨水平（351至1800微摩尔）与智商之间不存在相关性。CT异常与高氨血症昏迷持续时间之间也存在显著相关性（r = 0.85，P < 0.01），且CT异常与同时期智商之间也存在显著相关性（r = -0.75，P < 0.02）。这些结果表明，延长的新生儿高氨血症昏迷与脑损伤和智力功能损害有关。这种结果可通过早期诊断和治疗来预防。
