希特林蛋白缺陷病并自身免疫性溶血1例及文献复习

Citrin deficiency with autoimmune hemolysis: a case report and literature review

目的对1例临床诊断为新生儿肝内胆汁淤积症(NICCD)合并自身免疫性溶血的患儿及家系进行SLC25A13基因突变分析,以达到早确诊早治疗的目的。方法结合患儿的临床特点及靶向捕获二代测序(NGS)检测结果总结患儿的遗传特点进行确诊。结果患儿表现为皮肤、巩膜黄染等症状,伴血乳酸、甲胎蛋白等明显升高,临床诊断为NICCD。基因检测结果提示患儿SLC25A13基因5号外显子及5号内含子存在长片段纯合变异,父母均为携带者。结论 NICCD合并自身免疫性溶血病患临床上较为罕见,本文报告了该疾病致病基因新的突变形式,为日后疾病的及时诊疗提供案例参考。

Objective SLC25A13 gene mutation analysis was performed on a child and family with a clinical diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD) combined with autoimmune hemolysis to achieve the purpose of early diagnosis and early treatment. Methods Combined with the clinical characteristics of the children and the results of Next generation sequencing(NGS) detection, the genetic characteristics of the patients were summarized for diagnosis. Results The children presented with symptoms such as skin and sclera yellow staining, accompanied by a significant increase in blood lactic acid and alpha-fetoprotein, and was clinically diagnosed as NICCD. The results of genetic testing indicated that there were long homozygous mutations in exon 5 and intron 5 of SLC25A13 gene, and both parents were carriers. Conclusion NICCD combined with autoimmune hemolytic disease is clinically rare. This article reports a new mutation form of the disease-causing gene, which provides a case reference for timely diagnosis and treatment of the disease in the future.