希特林蛋白缺乏症的临床治疗研究进展

Research Progress of Clinical Treatment in Citrin Deficiency

希特林蛋白缺乏症(CD)作为罕见且复杂的遗传性疾病,根本治疗方法为肝移植,但受限于供体稀缺、费用高昂等,营养治疗和药物治疗仍是其主要干预手段。目前,高脂、高蛋白质与低糖饮食调整在CD患者管理中得到广泛应用,旨在纠正代谢异常;而在药物治疗方面,虽然中链三酰甘油、丙酮酸钠等药物可用于对症治疗,但尚无根治方案。未来研究应深入探讨CD的发病机制,以期发现新的治疗靶点,同时加强营养与药物的联合治疗方案研究,为患者提供更有效的治疗选择。

Citrin deficiency(CD)is a rare and complex genetic disease,and the fundamental treatment is liver transplantation.However,due to the scarcity of donors and high costs,nutritional and medication treatments are still the main intervention methods.At present,high-fat,high protein,and low carbohydrate diet adjustments are widely used in the management of CD patients,aiming to correct metabolic abnormalities;in terms of medication,although drugs such as medium chain triacylglycerol and sodium pyruvate can be used for symptomatic treatment,there is no cure plan yet.Future research should delve deeper into the pathogenesis of CD,in order to discover new therapeutic targets,and strengthen the study of combined nutritional and medication treatment plans to provide the patients with more effective treatment options.