PROSPECTIVE PREVENTION OF NEONATAL HYPERAMMONEMIA IN ARGININOSUCCINIC ACIDURA BY ARGININE THERAPY
PROSPECTIVE PREVENTION OF NEONATAL HYPERAMMONEMIA IN ARGININOSUCCINIC ACIDURA BY ARGININE THERAPY
复制标题
DOI：
10.1007/bf01805478
复制
发表时间：
1985-01-01
影响因子：
4.2
通讯作者：
THOENE, JG
中科院分区：
文献类型：
--
作者：
DONN, SM;THOENE, JG
由于精氨基琥珀酸裂解酶缺乏而导致的精氨基琥珀酸尿症通常与严重的新生儿高氨血症及其神经系统后遗症有关。介绍了患有这种常染色体隐性遗传疾病的 2 名兄弟姐妹的病例。两名婴儿均为早产，因产妇先兆子痫而通过剖腹产分娩。第一个婴儿直到出现严重高氨血症后才被诊断出来，尽管进行了充分的血液透析和精氨酸输注治疗，但仍长时间处于昏迷状态。 20个月时。她患有严重的发育迟缓和智力障碍。第二名婴儿在产前通过羊水分析做出诊断，从出生 32 小时开始接受精氨酸输注治疗，从未出现高氨血症。早期认识并及时开始精氨酸治疗是预防新生儿精氨酸琥珀酸尿症高氨血症的有效方案。
Argininosuccinic aciduria, due to deficiency of argininosuccinic acid lyase, is generally associated with severe neonatal hyperammonemia and its neurological sequelae. The cases of 2 siblings with this autosomal recessive disorder are presented. Both infants were preterm and delivered by cesarean section for maternal pre-eclampsia. The first infant was not diagnosed until after the development of severe hyperammonemia and, despite adequate treatment with hemodialysis and arginine infusion, remained comatose for a prolonged period. At 20 mo. she has profound developmental delays and intellectual impairment. The second infant, whose diagnosis was made antenatally by amniotic fluid analysis, was treated with arginine infusion beginning at 32 h of life and never developed hyperammonemia. Early recognition and prompt institution of arginine therapy is an effective regimen for the prevention of neonatal hyperammonemia in argininosuccinic aciduria.