Department of Pediatrics, KLE University's J.N. Medical College and KLES PK Hospital, Belgaum, India.
Indian J Pediatr. 2010 Jan;77(1):57-60. doi: 10.1007/s12098-010-0008-2. Epub 2010 Feb 5.
To study the clinico-investigative profile and outcome of patients with inborn errors of metabolism (IEM) presenting to the pediatric intensive care unit (PICU).
Records of all patients admitted in tertiary care centre PICU between August 2007 and September 2008 with a diagnosis of IEM were retrieved the details of clinical presentation, laboratory results, treatment and outcome were noted and analysed.
Eleven (2.6%) out of 420 PICU admissions during the study period had a diagnosis of IEM with a high mortality rate of 36%. Clinical presentation was quite varied.
IEM are not uncommon in PICU. Simple biochemical tests and neuroimaging findings provide vital clues to the diagnosis of IEM.
研究在儿科重症监护病房（PICU）就诊的先天性代谢错误（IEM）患者的临床-调查特征和结局。
检索 2007 年 8 月至 2008 年 9 月在三级护理中心 PICU 住院并诊断为 IEM 的所有患者的记录，记录临床特征、实验室结果、治疗和结局，并进行分析。
在研究期间，420 例 PICU 住院患者中有 11 例（2.6%）诊断为 IEM，死亡率高达 36%。临床表现差异很大。
IEM 在 PICU 并不少见。简单的生化试验和神经影像学发现为 IEM 的诊断提供了重要线索。
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