希特林蛋白缺乏症的营养及药物治疗

Nutritional and pharmacological treatment of Citrin protein deficiency

希特林蛋白缺乏症是由位于7q21.3染色体SLC25A13基因中的双等位基因致病变异引起的常染色体隐性遗传病,分为新生儿肝内胆汁淤积症(NICCD),希特林蛋白缺乏导致的发育不良和血脂异常(FTTDCD)及成人发病的Ⅱ型瓜氨酸血症(CTLN2)。饮食治疗是NICCD和FTTDCD的关键干预措施,过多、过量的碳水化合物摄入会加剧本病,而补充中链脂肪酸可以为肝细胞提供能量,促进脂肪生成。希特林蛋白缺乏症的根本治疗方案为肝移植,但由于供体稀缺和价格昂贵,营养干预和药物治疗仍然是临床治疗的主要手段。本文对希特林蛋白缺乏症的代谢途径、发病机制和临床表现进行简要概述,收集药物治疗和营养治疗方法并进行简要综述。

Citrin deficiency is an autosomal recessive genetic disorder caused by pathogenic variations in the biallelic genes of the SLC25A13 gene located on chromosome 7q21.3,which included neonatal intrahepatic cholestasis caused by Citrin deficiency(NICCD),failure to thrive and dyslipidemia caused by Citrin deficiency(FTTDCD),and adult-onset type Ⅱ citrullinemia(CTLN2).Dietary intervention is a key measure for NICCD and FTTDCD.Excessive carbohydrate intake can exacerbate the condition.Supplementation of medium-chain fatty acids can provide energy to the liver cells and promote lipid synthesis.Liver transplantation is the fundamental treatment for Citrin deficiency syndrome,but due to donor scarcity and high cost,nutritional intervention and drug therapy remain the main clinical approaches.This paper briefly reviewed the metabolic pathways,pathogenic mechanism,clinical manifestations of Citrin deficiency,and drug and nutritional treatment methods.