Citrin蛋白缺陷所致婴儿肝内胆汁淤积症20例基因分析及早期血胆汁酸谱特征OA北大核心CSTPCD
Gene analysis and early serum bile acid spectrum characteristics of 20 infants with intrahepatic cholestasis caused by Citrin deficiency
目的 探讨Citrin蛋白缺陷所致婴儿肝内胆汁淤积症患儿的基因表型及早期血胆汁酸谱特征.方法 收集2019年10月至2022年2月湖北省妇幼保健院儿童内分泌遗传代谢科收治的胆汁淤积症患儿的临床资料,将基因诊断为Citrin蛋白缺陷所致的婴儿肝内胆汁淤积症的患儿20例作为NICCD组,病因未明的31例患儿作为特发性胆汁淤积症(INC)组,选取5名健康婴幼儿作为正常对照(NC)组,回顾性分析NICCD组临床特点及基因结果.同时采用液相色谱串联质谱法(…查看全部>>
Objective To investigate the gene phenotype and early serum bile acid spectrum characteristics of infants with intrahepatic cholestasis caused by Citrin deficiency.Methods The clinical data of children with cholestasis admitted to the Department of Endocrine Genetic Metabolism in Children,Maternal and Child Health Hospital of Hubei Province from October 2019 to February 2022 were collected.Twenty children with infantile intrahepatic cholestasis caused by Cit…查看全部>>
孙文君;于飞
湖北省妇幼保健院儿童内分泌遗传代谢科,湖北武汉 430000湖北省妇幼保健院儿童内分泌遗传代谢科,湖北武汉 430000
临床医学
Citrin蛋白缺陷肝内胆汁淤积SLC25A13基因胆汁酸谱
Citrin deficiencyintrahepaticcholestasisSLC25A13 genebile acid spectrum
《中国实用儿科杂志》 2024 (4)
299-303,5
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