| 可引起儿童急性肝衰竭的遗传代谢病 |
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| 引用本文： | 梁欢,张惠文. 可引起儿童急性肝衰竭的遗传代谢病[J]. 临床肝胆病杂志, 2022, 38(2): 273-277 |
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| 作者姓名： | 梁欢 张惠文 |
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| 作者单位： | 上海交通大学医学院附属新华医院,上海市儿科医学研究所儿童内分泌与遗传科,上海200092 |
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| 基金项目： | 上海市科委自然科学基金(20ZR1446300)。 |
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| 摘 要： | 引起儿童急性肝衰竭(ALF)的病因较为复杂,其中遗传代谢病占比较高,特别是在婴幼儿时期。遗传代谢病是一类代谢相关基因突变导致的细胞生理功能破坏的先天性疾病,种类繁多,临床表现多样,ALF是其引起的严重并发症之一,由于部分缺乏特异性表现容易被忽视。应尽早识别这类病因引起的ALF,以期逆转ALF的进程,提高患者预后。本文对可引起儿童ALF的常见遗传代谢病予以归纳介绍,以期提高医生对此类病因的认识。
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| 关 键 词： | 肝功能衰竭 急性 遗传性疾病 先天性 诊断 |
Inherited metabolic diseases causing acute liver failure in children |
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| LIANG Huan,ZHANG Huiwen. Inherited metabolic diseases causing acute liver failure in children[J]. Chinese Journal of Clinical Hepatology, 2022, 38(2): 273-277 |
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| Authors: | LIANG Huan ZHANG Huiwen |
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| Affiliation: | (Department of Pediatric Endocrinology and Genetic Metabolism,Shanghai Institute for Pediatric Research,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China) |
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| Abstract: | Acute liver failure(ALF)in children has complex etiologies,among which inherited metabolic diseases account for a high proportion,especially in infants and young children.Inherited metabolic diseases are a group of congenital diseases with destruction of cell physiological function caused by metabolism-related gene mutations,with various types and diverse clinical manifestations.ALF is one of the serious complications caused by such diseases and is easily neglected due to a lack of specific manifestations.ALF caused by such etiologies should be identified as early as possible to reverse the progression of ALF and improve the prognosis of patients.This article summarizes the common inherited metabolic diseases that can cause ALF in children,in order to improve the awareness of such etiology among physicians. |
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| Keywords: | Liver Failure,Acute Genetic Diseases,Inborn Diagnosis |
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