Alhadab Abdulhamid, AlShihabi Hadeel, Mohamed Fatema, AlDuhilib Zahra, Arain Zahid, Bader Razan
Department of Pediatric, Section of Pediatric Gastroenterology, Hepatology, and Nutrition.
Department of Pediatric.
Eur J Gastroenterol Hepatol. 2023 Apr 1;35(4):420-430. doi: 10.1097/MEG.0000000000002499. Epub 2022 Dec 23.
The objective of this study was to determine the etiologies, outcomes, prognostic indicators and the role of genetic testing in children with acute liver failure (ALF).
This retrospective study included 46 patients with pediatric acute liver failure (PALF) according to the PALF study group definition, admitted to King Fahad Specialist Hospital-Dammam, Saudi Arabia, between January 2014 and December 2021. Patients who survived with supportive therapy were designated as the recovery group, whereas those who died or underwent liver transplantation were designated as the death/transplant group.
There were 26 (56.5%) patients in the recovery group and 20 (43.5%) patients in the death/transplant group. Four patients (8.7%) underwent liver transplantation. After indeterminate causes (45.6%), genetic-metabolic diseases and drug-induced liver injury (DILI) were the most common cause with 15.2 and 13%, respectively. Genetic testing had a high yield of (6/31) in identifying monogenic disease associated with ALF. Younger age, lower Glasgow Coma Scale and higher international normalized ratio (INR) on admission were predictors for poor prognosis. The death/transplant group had longer intensive care unit stay ( P < 0.001), and on admission they had more advanced hepatic encephalopathy ( P < 0.005), more prolonged prothrombin time ( P < 0.001), higher lactate ( P < 0.006), higher total and direct bilirubin ( P < 0.008) and ( P < 0.001), respectively.
Genetic, metabolic and DILI causes constituted the most common cause of PALF after indeterminate causes. The use of genetic testing can improve diagnostic rates in special cases, but we could not assess the effect of genetic testing on prognosis. The overall survival rate in our study was 65.2%. Younger age, higher admission INR and lower Glasgow coma scale were indicators of poor prognosis.
本研究旨在确定儿童急性肝衰竭（ALF）的病因、结局、预后指标以及基因检测的作用。
本回顾性研究纳入了根据儿童急性肝衰竭（PALF）研究组定义确诊的46例儿科急性肝衰竭（PALF）患者，这些患者于2014年1月至2021年12月期间入住沙特阿拉伯达曼法赫德国王专科医院。经支持治疗存活的患者被指定为恢复组，而死亡或接受肝移植的患者被指定为死亡/移植组。
恢复组有26例（56.5%）患者，死亡/移植组有20例（43.5%）患者。4例（8.7%）患者接受了肝移植。在不明原因（45.6%）之后，遗传代谢性疾病和药物性肝损伤（DILI）是最常见的病因，分别占15.2%和13%。基因检测在识别与ALF相关的单基因疾病方面有较高的阳性率（6/31）。年龄较小、格拉斯哥昏迷量表评分较低以及入院时国际标准化比值（INR）较高是预后不良的预测因素。死亡/移植组的重症监护病房住院时间更长（P < 0.001），入院时他们有更严重的肝性脑病（P < 0.005）、更长的凝血酶原时间（P < 0.001）、更高的乳酸水平（P < 0.006）、更高的总胆红素和直接胆红素水平（P < 0.008）和（P < 0.001）。
在不明原因之后，遗传、代谢和DILI病因是PALF最常见的病因。基因检测的应用可以提高特殊病例的诊断率，但我们无法评估基因检测对预后的影响。本研究的总体生存率为65.2%。年龄较小、入院时INR较高和格拉斯哥昏迷量表评分较低是预后不良的指标。
