Citrin缺陷致新生儿肝内胆汁淤积症的研究进展

Citrin缺陷病为SLC25A13基因突变所导致的遗传性代谢性疾病,随着分子生物学技术的快速发展,其基因突变谱持续扩大.Citrin缺陷所致新生儿肝内胆汁淤积症表现为患儿出生后不久出现多样性肝功能受损、生化指标异常等,该病发病机制尚未完全清楚,目前仍依靠基因检测确诊.该文从分子遗传学、发病机制、临床表现、多种诊断技术及防治等方面介绍该病的研究进展.

Progress of neonatal intrahepatic cholestasis caused by citrin deficiency

Citrin deficiency is a kind of genetic metabolic disorder caused by mutations of SLC25A13 gene.With the rapid growth of molecular biology technology,the SLC25A13 gene mutation spectrum is expanding.The patients of neonatal intrahepatic cholestasis caused by citrin deficiency represent multiple impaired liver function and abnormal biochemical indicators.The mechanism is not clear until now and final diagnosis depends on gene detection.We introduce the progress from molecular genetics,pathogenesis,clinical manifestation,multiple diagnostic techniques and treatment of the disease.