Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)是SLC25A13基因突变影响载体蛋白citrin功能而形成的遗传代谢病。本病患者体内氧化应激增强,且大多存在不同程度肝纤维化。NICCD目前缺乏公认的临床或生化诊断标准,而SLC25A13基因分析是本病确诊的可靠依据。限制半乳糖和(或)强化中链三酰甘油的治疗奶粉已被证实可改善NICCD病情,但具体机制有待深入研究。NICCD有多种不同的临床转归,部分患者可因肝衰竭或合并严重感染而死亡。 Citrin deficiency caused by neonatal intrahepatic cholestasis (NICCD) is a genetic metabolic disease caused by mutations in the SLC25A13 gene that affect the carrier protein citrin. The patient’s body oxidative stress increased, and most of the existence of varying degrees of liver fibrosis. NICCD currently lacks a recognized clinical or biochemical diagnostic criteria, and SLC25A13 genetic analysis is a reliable basis for the diagnosis of this disease. Limiting galactose and / or fortified mid-chain triglycerides has been shown to improve the NICCD condition, but the exact mechanism remains to be explored. NICCD has many different clinical outcomes, and some patients may die of liver failure or severe combined infection.