Neonatal intrahepatic cholestasis caused by citrin deficiency：updated understanding
10.3969/j.issn.1000-3606.2016.12.016
- VernacularTitle:Citrin蛋白缺乏致新生儿肝内胆汁淤积症：更新的认识
- Author:
Jingying LIU
;
Jingkun MIAO
;
Yuanyuan HUA
;
Huijuan LIU
;
Qian MA
;
Chun LI
;
Jialin YU
;
Qixiong CHEN
- Keywords:
Citrin protein;
intrahepatic cholestasis;
gene mutations;
newborn
- From:
Journal of Clinical Pediatrics
2016;34(12):949-953,955
- CountryChina
- Language:Chinese
-
Abstract:
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disease caused by SLC25A13 gene mutations, and is characterized by delayed jaundice clearance, liver dysfunction, and elevated aminoacidemia. The confirmed diagnosis depends on gene analysis. Citrin deficiency is one of the important causes of neonatal intrahepatic cholestasis in China. Recently more and more researches about NICCD were reported. The paper summarized the epidemiology, pathogenesis, clinical characteristics, and progresses in diagnosis and treatment of NICCD.
