Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
East Mediterr Health J. 2019 Jan 23;24(11):1103-1111. doi: 10.26719/emhj.18.056.
Although inborn errors of metabolism (IEM) are rare individually, collectively IEM cause substantial morbidity and mortality and the diagnosis is challenging.
To analyse epidemiological and clinical data, final diagnosis and clinical outcomes of patients with a suspected diagnosis of IEM (small molecule disorders type) admitted to a paediatric intensive care unit (PICU).
We collected and analysed medical records data of all patients admitted to the PICU at Alexandria University Children's Hospital, from January 2010 to December 2014, with a suspected or confirmed diagnosis of small molecule disorders, including clinical presentations, laboratory results and clinical outcomes.
A total of 34 patients had a suspected or confirmed diagnosis of small molecule disorders at PICU admission. Diagnosis was confirmed in 22.7% of suspected cases at admission and in 25% of suspected cases during PICU stay. Consanguineous marriage was found in 50% of cases with confirmed small molecule disorders.
A high index of suspicion is important for diagnosing and categorizing small molecule disorders in screening of high-risk individuals in low- and middle-income countries.
尽管单个的先天性代谢缺陷（IEM）较为罕见，但它们共同导致了大量的发病率和死亡率，且诊断极具挑战性。
分析疑似先天性代谢缺陷（小分子疾病类型）患儿入住儿科重症监护病房（PICU）的流行病学和临床数据、最终诊断和临床结局。
我们收集并分析了 2010 年 1 月至 2014 年 12 月期间入住亚历山大大学儿童医院 PICU 的所有疑似或确诊小分子疾病患儿的病历数据，包括临床表现、实验室结果和临床结局。
共有 34 名患儿在 PICU 入院时被怀疑或确诊患有小分子疾病。在疑似病例中，入院时确诊的比例为 22.7%，在 PICU 住院期间确诊的比例为 25%。在确诊的小分子疾病病例中，有 50%存在近亲结婚。
在中低收入国家对高危人群进行筛查时，高度怀疑是诊断和分类小分子疾病的重要因素。
