摘要
Citrin缺陷病是由于SLC25A13基因突变导致的一种常染色体隐性遗传病，有两种年龄相关表型：成年发病Ⅱ型瓜氨酸血症和Citrin缺陷所致的新生儿肝内胆汁淤积症。目前认为该病于亚洲人种多发，而且我国南方该基因突变携带者频率较高。该病尚缺乏公认的临床或生化诊断标准，因而基因分析为目前确诊的主要依据，越来越多的病例报道提示该病并非传统认为的自限性疾病，其结局多种多样而且并非所有患者预后均良好，因此认识该病并做到早期诊断及适当治疗对改善预后起非常重要的作用。该文主要对国内外Citrin缺陷病研究现状作一综述。
Citrin deficiency,caused by mutations in SLC25A13 ,is an autosomal recessive genetic disor-der with two age-related phenotypes： adult-oneset type II citrullinemia and neonatal intrahepatic cholestasis. Re-cently,it has been found mostly in individuals of East Asian ancestry. In south China, there is a high mutation carder frequency especially. There is still a lack of criteria for clinical or biochemical diagnosis of this disease, gene analysis is the main basis of the current diagnosis consequently. Surging number of case reports indicate that Citrin deficiency is not a self-limited disease. Early diagnosis and proper treatments may improve the prognosis. This paper focuses on the current researches in order to make further comprehensiom.
出处
《国际儿科学杂志》
2013年第1期51-54,共4页
International Journal of Pediatrics
