Schiergens Katharina A, Staudigl Michael, Borggraefe Ingo, Maier Esther M
Department of Inborn Errors of Metabolism, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany.
Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany.
Neuropediatrics. 2018 Dec;49(6):363-368. doi: 10.1055/s-0038-1661415. Epub 2018 Jun 28.
In the 2015 mass migration from Syria and neighboring countries, Germany received an unprecedented number of 4,76,649 asylum applications. As many of the refugees arrived in Southern Germany via the Austrian border, the city of Munich was faced with the majority of Germany's inflow of war refugees and their complex health issues. Among the refugees were a high number of children. Their main health issues were infectious diseases and surgical procedures due to trauma, but we also encountered complex chronic diseases. This report describes clinical history, signs and symptoms, diagnostics, and treatment of six pediatric patients with untreated inborn errors of metabolism (IEM): phenylketonuria, biotinidase deficiency, HMG-CoA lyase deficiency, mucopolysaccharidosis type II, and mucopolysaccharidosis type VI. Since early diagnosis and treatment is essential in IEM, both delayed diagnosis and inadequate therapy in refugee children may lead to significant brain injury, organ damage, and even death. Severe neurological sequelae in both phenylketonuria and HMG-CoA lyase deficiency could have been prevented by newborn screening. Screening programs are necessary to improve the prognoses for refugee children. European Union governments and involved health care systems should pursue early diagnosis and treatment in pediatric refugees regarding IEM to prevent neurological long-term sequelae.
在2015年叙利亚及周边国家的大规模移民潮中，德国收到了史无前例的476,649份庇护申请。由于许多难民经由奥地利边境抵达德国南部，慕尼黑市面临着德国境内大部分战争难民的涌入以及他们复杂的健康问题。难民中有大量儿童。他们的主要健康问题是传染病以及因创伤导致的外科手术问题，但我们也遇到了复杂的慢性疾病。本报告描述了6例未经治疗的先天性代谢缺陷病（IEM）患儿的临床病史、体征和症状、诊断及治疗情况：苯丙酮尿症、生物素酶缺乏症、HMG-CoA裂解酶缺乏症、II型黏多糖贮积症和VI型黏多糖贮积症。由于IEM的早期诊断和治疗至关重要，难民儿童的诊断延误和治疗不足都可能导致严重的脑损伤、器官损害甚至死亡。苯丙酮尿症和HMG-CoA裂解酶缺乏症的严重神经后遗症本可通过新生儿筛查预防。筛查项目对于改善难民儿童的预后很有必要。欧盟各国政府及相关医疗体系应针对IEM对儿科难民进行早期诊断和治疗，以预防长期神经后遗症。
