Abstract: Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency（NICCD） is an hereditary metabolic metabolic disease resulting from biallelic mutations of SLC25A13 gene which encodes citrin protein in mitochondrial inner membrane. Energy shortage in hepatocytes is the key pathophysiology for citrin deficiency. Besides the various canalicular transporters，the function of a series of basolateral transporters of the hepatocyte including NTCP，mEH，OATPs，MRP3，MRP4 and Ostα/β may also be impaired by energy shortage，thus aggravating the biochemical manifestations of cholestasis in NICCD patients.

Key words: Citrin deficiency, cholestasis, basolateral membrane, transporter

摘要： 希特林缺陷导致的新生儿肝内胆汁淤积症（neonatal intrahepatic cholestasis caused by citrin deficiency，NICCD）是一种由SLC25A13基因突变，位于肝细胞线粒体内膜的希特林蛋白功能不足而形成的遗传代谢病。NICCD发病病理生理关键是肝细胞能量缺乏；除了胆小管膜上一系列载体蛋白，肝细胞基侧膜上NTCP、mEH、OATPs、MRP3、MRP4和Ostα/β等载体蛋白转运功能也可能受此影响而加重胆汁淤积及生化代谢异常。

关键词: 希特林缺陷病, 胆汁淤积症, 肝细胞基侧膜, 转运蛋白