Hübler A, Seidel J, Patzer L, Bellstedt K, Schramm D
Klinik für Kinder- und Jugendmedizin der Friedrich-Schiller-Universität Jena, Jena, Germany.
Z Geburtshilfe Neonatol. 2001 Nov-Dec;205(6):236-41. doi: 10.1055/s-2001-19056.
We report on a male preterm infant (gestational age 31 weeks, birth weight 1420 g) and a male term infant (gestational age 38 weeks, birth weight 3680 g) with ornithine transcarbamylase (OTC) deficiency. After inconspicuous cardiopulmonary adjustment, both entered a state of metabolic crisis with respiratory insufficiency and ventilatory requirement at the 2nd and 4th day of life, respectively. Diagnosis of hyperammonemia (NH(3) > 1000 micromol/l) was followed by the detection of a plasma amino acid pattern that is typical for OTC-deficiency and an excessive orotic aciduria. Beside intravenous treatment (insulin-glucose-infusion, lipid infusion, sodium benzoate, arginine, L-carnitine), the preterm infant received an exchange transfusion and was supplied with central venous catheters, hemofiltration and hemodialysis. He died after severe disturbances of circulation and coagulation at the 14th day. The male term infant tolerated the effective hemofiltration and was dicharged home with specific therapy at day 26.
Time of diagnosis and influence of additional risk factors are decisively for the prognosis of OTC-deficiency. The immediate aims of therapy (stabilization of vital functions, reduction of plasma ammonium, control of nutrition) can only be realized in cooperation between neonatology, division of metabolism, pediatric nephrology and pediatric surgery.
我们报告了一名患有鸟氨酸转氨甲酰酶（OTC）缺乏症的男性早产儿（胎龄31周，出生体重1420克）和一名男性足月儿（胎龄38周，出生体重3680克）。在进行了不明显的心肺调整后，两人分别在出生后第2天和第4天进入了伴有呼吸功能不全和通气需求的代谢危机状态。高氨血症（NH₃>1000微摩尔/升）的诊断之后是检测到典型的OTC缺乏症血浆氨基酸模式和过量的乳清酸尿症。除了静脉治疗（胰岛素-葡萄糖输注、脂质输注、苯甲酸钠、精氨酸、左旋肉碱）外，早产儿接受了换血治疗，并配备了中心静脉导管、血液滤过和血液透析。他在第14天因严重的循环和凝血障碍死亡。男性足月儿耐受了有效的血液滤过，并在第26天接受特定治疗后出院回家。
诊断时间和其他风险因素的影响对OTC缺乏症的预后起决定性作用。治疗的直接目标（维持生命功能稳定、降低血浆铵水平、控制营养）只有在新生儿科、代谢科、儿科肾病科和儿科外科的合作下才能实现。
