Citrin缺陷导致的新生儿肝内胆汁淤积症1例并文献复习

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency: A Case Report and Literature Review

摘要: 目的：总结Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)的治疗过程，提高临床诊治水平。方法：报告1例2月龄男性NICCD患儿病例，分析其临床资料(黄疸、肝功能异常、遗传代谢病筛查及基因检测结果)，并复习相关文献。结果：患儿，男，2月，因“全身皮肤黄染2月余”起病，实验室检查显示高瓜氨酸血症、甲硫氨酸升高及肝酶异常，基因检测确诊为SLC25A13基因杂合突变(c.852_855del及c.1751-5_175)。经无乳糖配方奶喂养、护肝及脂溶性维生素补充治疗后，患儿生长发育良好，随访指标趋于正常。NICCD早期通过饮食调整及对症治疗预后一般良好，但部分患者可能进展为肝功能衰竭或成年期瓜氨酸血症II型(CTLN2)，需长期随访。结论：NICCD临床表现缺乏特异性，结合遗传代谢病筛查与基因检测可早期确诊。及时饮食干预及对症治疗后，多数患儿预后良好，但需警惕远期并发症，应进行长期随访。

Abstract: Objective: To summarize the treatment process of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and improve clinical diagnosis and management. Methods: A case of a 2-month-old male infant with NICCD was reported. Clinical data (jaundice, abnormal liver function, genetic metabolic screening, and gene test results) were analyzed, and relevant literature was reviewed. Results: The infant presented with “generalized jaundice for over 2 months.” Laboratory tests revealed hyper-citrullinemia, elevated methionine, and abnormal liver enzymes. Genetic testing confirmed a heterozygous mutation in the SLC25A13 gene (c.852_855del and c.1751-5_175). After treatment with lactose-free formula feeding, liver protection, and fat-soluble vitamin supplementation, the infant showed favorable growth and development, with follow-up indicators gradually normalizing. Early dietary modification and symptomatic treatment generally lead to a good prognosis in NICCD; however, some patients may progress to liver failure or adulthood-onset citrullinemia type II (CTLN2), necessitating long-term follow-up. Conclusion: NICCD lacks specific clinical manifestations. Early diagnosis can be achieved through genetic metabolic screening and gene testing. Timely dietary intervention and symptomatic treatment often result in favorable outcomes, but long-term complications require vigilance, emphasizing the importance of prolonged follow-up.