新生儿鸟氨酸氨甲酰基转移酶缺乏症

Neonate-onset ornithine transcarbamylase deficiency

摘要:

患儿男，生后15 h，因窒息复苏后呼吸困难15 h、反应差3 h入院。患儿反应极差，阵发性惊厥发作，中枢性呼吸衰竭，血氨异常增高（>1 000 μmol/L）。入院后，血串联质谱检查显示瓜氨酸明显降低，快速家系全基因组测序显示患儿为OTC基因变异，变异来自母亲。给予连续性静脉血液透析滤过等治疗，并通过脑电图和头颅磁共振检查进行神经系统评估。患儿明确诊断为鸟氨酸氨甲酰基转移酶缺乏症，合并脑损伤。生后6 d家属放弃治疗后死亡。该文对新生儿高氨血症的鉴别诊断进行重点描述，并介绍先天性遗传代谢性疾病的多学科诊疗。

Abstract:

The male neonate in this case study was admitted to the hospital at 15 hours of age due to respiratory distress for 15 hours and poor response for 3 hours after resuscitation from asphyxia. The neonate was highly unresponsive, with central respiratory failure and seizures. Serum ammonia was elevated (>1 000 μmol/L). Blood tandem mass spectrometry revealed a significant decrease in citrulline. Rapid familial whole genome sequencing revealed OTC gene mutations inherited from the mother. Continuous hemodialysis filtration and other treatments were given. Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. This article focuses on the differential diagnosis of neonatal hyperammonemia and introduces the multidisciplinary management of inborn error of metabolism.