遗传性代谢病的临床和生化特征。二、代谢性肝病。
Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.
机构信息
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Department of Gastroenterology-Hepatology and Metabolic Center, University of Leuven, Leuven, Belgium.
出版信息
Mol Genet Metab. 2019 Jun;127(2):117-121. doi: 10.1016/j.ymgme.2019.04.002. Epub 2019 Apr 12.
Abstract
Inherited metabolic diseases account for about one third of pediatric patients with hepatomegaly, acute liver failure, cirrhosis or cholestasis. Specifically for pediatric acute liver failure, they account for 10-15% of cases, with a mortality of 22-65%. The percentage of acute liver failure caused by an inherited metabolic disease in children <2-3 years of age is even higher, ranging from a third to half of all cases. Metabolic liver disease accounts for 8-13% of all pediatric liver transplantations. Despite this high burden of disease, underdiagnosis remains common. We reviewed and updated the list of known metabolic etiologies associated with various types of metabolic liver involvement, and found 142 relevant inborn errors of metabolism. This represents the second of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
摘要
遗传性代谢疾病约占肝肿大、急性肝衰竭、肝硬化或胆汁淤积症儿童患者的三分之一。具体来说，对于儿科急性肝衰竭，它们占病例的 10-15%，死亡率为 22-65%。<2-3 岁儿童因遗传性代谢疾病引起的急性肝衰竭的比例甚至更高，占所有病例的三分之一到一半。代谢性肝病占所有儿科肝移植的 8-13%。尽管疾病负担如此之高，但漏诊仍然很常见。我们回顾并更新了与各种类型代谢性肝受累相关的已知代谢病因列表，发现了 142 种相关的先天性代谢缺陷。这是一系列试图根据系统受累创建和维护全面的临床和代谢鉴别诊断列表的第二篇文章。
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SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).SCYL1 变异导致一种低γ-谷氨酰转移酶胆汁淤积、急性肝衰竭和神经退行性变（CALFAN）综合征。
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