Dias Costa Filipa, Moinho Rita, Ferreira Sandra, Garcia Paula, Diogo Luísa, Gonçalves Isabel, Pinto Carla
Serviço de Cuidados Intensivos Pediátricos, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Serviço de Cuidados Intensivos Pediátricos, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
An Pediatr (Engl Ed). 2018 Feb;88(2):69-74. doi: 10.1016/j.anpedi.2017.02.012. Epub 2017 Apr 12.
Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children.
Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology.
From 34 ALF cases, 18 were related to IMD: galactosemia (4), mitochondrial DNA depletion syndrome (MDS) (3), ornithine transcarbamilase deficiency (3), congenital defects of glycosylation (2), tyrosinemia type 1 (2), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1), hereditary fructose intolerance (1), classic methylmalonic aciduria (1) and citrulinemia type 1 (1). The median age was 1.3 months. At least one previous suggestive sign/symptom of IMD (vomiting, failure to thrive, hypotonia or developmental delay) was observed in 67% of the cases. The most common physical signs at admission included: hepatomegaly (72%), jaundice (67%) and encephalopathy (44%). The peak laboratorial findings were: mean international normalizad ratio 4.5, median lactate 5mmol/L, mean bilirubin 201μmol/L, median alanine aminotransferase (ALT) 137 UI/L and median ammonia 177μmol/L. One patient was submitted to liver transplant in ALF context (MSD). The mortality rate was 44%.
The identification of IMD as a frequent cause of ALF allowed specific therapeutic measures and adequate family counselling. Particular clinical features and moderated ALT and bilirubin levels can lead to its suspicion.
由遗传性代谢疾病（IMD）导致的小儿急性肝衰竭（ALF）是一种罕见的危及生命的疾病，预后较差。早期干预可能挽救生命。
描述幼儿中与IMD相关的ALF的临床表现、检查及预后。
回顾性分析在27年期间入住三级儿科和新生儿重症监护病房、符合ALF标准且有代谢病因记录的24个月以下儿童的病历。
在34例ALF病例中，18例与IMD相关：半乳糖血症（4例）、线粒体DNA耗竭综合征（MDS）（3例）、鸟氨酸转氨甲酰酶缺乏症（3例）、糖基化先天性缺陷（2例）、1型酪氨酸血症（2例）、长链3-羟基酰基辅酶A脱氢酶缺乏症（1例）、遗传性果糖不耐受（1例）、经典型甲基丙二酸血症（1例）和1型瓜氨酸血症（1例）。中位年龄为1.3个月。67%的病例至少有一项先前提示IMD的体征/症状（呕吐、生长发育迟缓、肌张力低下或发育迟缓）。入院时最常见的体征包括：肝肿大（72%）、黄疸（67%）和脑病（44%）。实验室检查的峰值结果为：平均国际标准化比值4.5、中位乳酸5mmol/L、平均胆红素201μmol/L、中位丙氨酸转氨酶（ALT）137 UI/L和中位氨177μmol/L。1例患者在ALF情况下接受了肝移植（MSD）。死亡率为44%。
将IMD确定为ALF的常见病因有助于采取特定的治疗措施并为家庭提供充分的咨询。特定的临床特征以及ALT和胆红素水平适中可引发对其的怀疑。
