PDF(Pubmed)
Abstract：
Methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are very rare autosomal recessive inherited metabolic diseases from the group of organoacidopathies. Katabolism due to minor infections can lead to metabolic decompensation including hyperammonemia and ketoacidosis, especially in small children. We present data from a small cohort to clarify whether placement of a percutaneous endoscopic gastrostomy with jejunal tube (J-PEG) reduce metabolic imbalances and hospital stays. The aim is to prevent emergencies from occurring by preventing metabolic derailments at an early stage. 4 patients with MMA (N = 3) or PA (N = 1) were included. Data were collected at every investigation, in particular pH value, pCO2, bicarbonate, base excess, ammonia and lactate. Due to repeated metabolic derailments, a percutaneous endoscopic gastrostomy was placed for postpyloric nutrition. In conclusion, placement of a percutaneous endoscopic gastrostomy with postpyloric tube appears to reduce the rate of metabolic decompensations. In addition, hospital stays and especially the number of treatment days can be reduced. This method, especially the placement of a postpyloric tube could enable parents to prevent catabolism when vomiting begins by continuously feeding through the jejunal part, as a step to prevent a metabolic emergency from occurring.
摘要：
甲基丙二酸血症（MMA）和丙酸血症（PA）是有机酸病中非常罕见的常染色体隐性遗传代谢疾病。轻微感染引起的糖代谢障碍可导致代谢失代偿，包括高氨血症和酮症酸中毒，尤其是在小孩子身上。我们提供了一个小队列的数据，以阐明经皮内镜下空肠造口术（J-PEG）是否可以减少代谢失衡和住院时间。目的是通过早期预防代谢脱轨来防止紧急情况的发生。包括4例MMA（N=3）或PA（N=1）患者。每次调查都收集数据，特别是pH值，二氧化碳，碳酸氢盐，碱过量，氨和乳酸。由于反复的代谢脱轨，经皮内镜胃造口术用于幽门后营养。总之,经皮内镜下胃造瘘术与幽门后管的放置似乎可以降低代谢失代偿率。此外,住院时间，尤其是治疗天数可以减少。这种方法,特别是放置幽门后管可以使父母在呕吐开始时通过持续通过空肠部分喂养来防止分解代谢，作为防止代谢紧急情况发生的步骤。
