PDF(Pubmed)
Abstract：
UNASSIGNED: Propionic acidemia (PA) is an inborn error of organic acid metabolism inherited in an autosomal recessive manner. The neonatal-onset disease may present with feeding difficulties and vomiting; seizures, coma, and death may occur if untreated. In addition, catabolic processes such as infections and surgical procedures could cause metabolic decompensation, so patients with organic acidemia should be followed closely.
UNASSIGNED: Here, a patient diagnosed with PA and Apert syndrome in the neonatal period and the complications caused by the coexistence of the two entities are mentioned. The difficulties precipitated by the coexistence of Apert syndrome and PA make this case unique. She has had prolonged hospitalizations due to metabolic decompensations after cranioplasty and inguinal hernia repair, both triggered by nosocomial respiratory infections, complicating both the surgical treatment of Apert syndrome and the management of PA.
UNASSIGNED: Coexistence of these two serious disorders mandates a more prudent clinical management as Apert syndrome patients undergo several surgical procedures, rendering them susceptible to catabolic decompensations.
UNASSIGNED: Here, a patient diagnosed with PA and Apert syndrome in the neonatal period and the complications caused by the coexistence of the two entities are mentioned. The difficulties precipitated by the coexistence of Apert syndrome and PA make this case unique. She has had prolonged hospitalizations due to metabolic decompensations after cranioplasty and inguinal hernia repair, both triggered by nosocomial respiratory infections, complicating both the surgical treatment of Apert syndrome and the management of PA.
UNASSIGNED: Coexistence of these two serious disorders mandates a more prudent clinical management as Apert syndrome patients undergo several surgical procedures, rendering them susceptible to catabolic decompensations.
摘要：
■丙酸血症（PA）是以常染色体隐性方式遗传的有机酸代谢的先天性错误。新生儿发病的疾病可能表现为喂养困难和呕吐；癫痫发作，昏迷,如果不治疗，可能会死亡。此外,分解代谢过程，如感染和外科手术可能导致代谢失代偿，因此，应密切关注有机酸血症患者。
■这里，提到了在新生儿期被诊断患有PA和Apert综合征的患者以及由两种实体共存引起的并发症。Apert综合征和PA共存所带来的困难使这种情况变得独特。由于颅骨修补术和腹股沟疝修补术后代谢失代偿，她长期住院，都是由医院呼吸道感染引发的，使Apert综合征的手术治疗和PA的治疗复杂化。
■这两种严重疾病的共存要求更谨慎的临床管理，因为Apert综合征患者接受了多次外科手术，使他们容易受到分解代谢失调的影响。
■这里，提到了在新生儿期被诊断患有PA和Apert综合征的患者以及由两种实体共存引起的并发症。Apert综合征和PA共存所带来的困难使这种情况变得独特。由于颅骨修补术和腹股沟疝修补术后代谢失代偿，她长期住院，都是由医院呼吸道感染引发的，使Apert综合征的手术治疗和PA的治疗复杂化。
■这两种严重疾病的共存要求更谨慎的临床管理，因为Apert综合征患者接受了多次外科手术，使他们容易受到分解代谢失调的影响。
