新生儿高氨血症诊断与治疗的专家共识

Expert consensus on the diagnosis and treatment of neonatal hyperammonemia

摘要:

新生儿高氨血症是一种发生于新生儿期的氨代谢紊乱，以血液中氨的异常积累、中枢神经系统功能障碍为主要表现的临床综合征。由于其发病率较低，且临床表现缺乏特异性，易造成误诊、漏诊。为进一步规范新生儿高氨血症的诊断与治疗，中华医学会儿科学分会新生儿学组青年委员会基于国内外临床证据，结合临床实践经验，制定了该专家共识，对新生儿高氨血症的诊断和治疗提出了18条推荐意见。

Abstract:

Neonatal hyperammonemia is a disorder of ammonia metabolism that occurs in the neonatal period. It is a clinical syndrome characterized by abnormal accumulation of ammonia in the blood and dysfunction of the central nervous system. Due to its low incidence and lack of specificity in clinical manifestations, it is easy to cause misdiagnosis and missed diagnosis. In order to further standardize the diagnosis and treatment of neonatal hyperammonemia, the Youth Commission, Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association formulated the expert consensus based on clinical evidence in China and overseas and combined with clinical practice experience,and put forward 18 recommendations for the diagnosis and treatment of neonatal hyperaminemia.