Lipari Patrícia, Shchomak Zakhar, Boto Leonor, Janeiro Patrícia, Moldovan Oana, Abecasis Francisco, Gaspar Ana, Vieira Marisa
Department of Pediatrics, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Pediatric Intensive Care Unit, Department of Pediatric, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
J Pediatr Intensive Care. 2020 Dec 15;11(3):183-192. doi: 10.1055/s-0040-1721738. eCollection 2022 Sep.
Few studies exist describing resources and care of pediatric patients with inborn errors of metabolism (IEM) admitted to pediatric intensive care unit (PICU). This study aims to characterize the PICU admissions of these patients to provide better diagnostic and therapeutic care in the future. Retrospective analysis of pediatric patients with IEM admitted to the PICU of a tertiary care center at a metabolic referral university hospital from 2009 to 2019 was included. Clinical information and demographic data were collected from PICU clinical records. During this period, 2% ( = 88 admissions, from 65 children) out of 4,459 PICU admissions had clinical features of IEM. The median age was 3 years (range: 3 days-21 years) and 33 were male. Median age at diagnosis was 3 months; 23/65 patients with intoxication disorders, 21/65 with disorders of energy metabolism, 17/65 with disorders of complex molecules, and 4/65 with other metabolic diseases (congenital lipodystrophy, Menkes' disease, hyperammonemia without a diagnosis). From a total of 88 admissions, 62 were due to metabolic decompensation (infection-38, neonatal period decompensation-14, external accident-5, prolonged fasting-2, and therapeutic noncompliance-3) and 26 elective admissions after a scheduled surgery/elective procedure. The most frequent clinical presentations were respiratory failure (30/88) and neurological deterioration (26/88). Mechanical ventilation was required in 30 patients and parenteral nutrition in 6 patients. Extracorporeal removal therapy was required in 16 pediatric patients (12 with maple syrup urine disease and 4 with hyperammonemia) with a median duration of 19 hours. The median length of PICU stay was 3.6 days (3 hours-35 days). Eight patients died during the studied period (cerebral edema-2, massive hemorrhage-5, and malignant arrhythmia-1). Acute decompensation was the main cause of admission in PICU in these patients. The complexity of these diseases requires specialized human and technical resources, with an important impact on the recovery and survival of these patients.
很少有研究描述入住儿科重症监护病房（PICU）的患有先天性代谢缺陷（IEM）的儿科患者的资源和护理情况。本研究旨在描述这些患者入住PICU的特征，以便未来提供更好的诊断和治疗护理。纳入了对2009年至2019年在一所代谢转诊大学医院的三级护理中心的PICU住院的患有IEM的儿科患者的回顾性分析。从PICU临床记录中收集临床信息和人口统计学数据。在此期间，4459例PICU住院患者中有2%（n = 88例入院，来自65名儿童）具有IEM的临床特征。中位年龄为3岁（范围：3天至21岁），男性33例。诊断时的中位年龄为3个月；23/65例患者患有中毒性疾病，21/65例患有能量代谢紊乱，17/65例患有复杂分子紊乱，4/65例患有其他代谢疾病（先天性脂肪营养不良、门克斯病、未确诊的高氨血症）。在总共88例入院病例中，62例是由于代谢失代偿（感染38例、新生儿期失代偿14例、外部事故5例、长期禁食2例、治疗不依从3例），26例是在预定手术/择期手术后的择期入院。最常见的临床表现是呼吸衰竭（30/88）和神经功能恶化（26/88）。30例患者需要机械通气，6例患者需要肠外营养。16例儿科患者（12例患有枫糖尿症，4例患有高氨血症）需要体外清除治疗，中位持续时间为19小时。PICU住院的中位时长为3.6天（3小时至35天）。在研究期间有8例患者死亡（脑水肿2例、大量出血5例、恶性心律失常1例）。急性失代偿是这些患者入住PICU的主要原因。这些疾病的复杂性需要专门的人力和技术资源，对这些患者的康复和生存有重要影响。
