Pathophysiologic and therapeutic insights into neonatal intrahepatic cholestasis caused by Citrin deficiency:fo-cusing on the canalicular transporters
10.3760/cma.j.issn.2095-428X.2018.19.002
- VernacularTitle:Citrin缺陷导致的新生儿肝内胆汁淤积症发病机制和治疗策略:聚焦胆小管膜载体蛋白
- Author:
Yuanzong SONG
1
Author Information
1. 暨南大学附属第一医院儿科
- Keywords:
Citrin deficiency;
Cholestasis;
Canaliculi;
Transporters
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(19):1447-1450
- CountryChina
- Language:Chinese
-
Abstract:
The elevated NADH/ NAD + ratio in the plasma of the hepatocyte is a key pathophysiologic altera-tion for the development of neonatal intrahepatic cholestasis caused by Citrin deficiency (NICCD). The elevated ratio results in energy shortage in hepatocytes and impairs the function of the ATP - dependent canalicular transporters,in-cluding BSEP,MDR3,FIC1,Sterolin 1 / 2 and MRP2,leading to intrahepatic cholestasis in NICCD patients. On the other hand,the increased NADH/ NAD + ratio inhibits galactose metabolism and thus gives rise to secondary galactosemia, damaging the hepatocyte as well as extrahepatic organs including the lens of the eyes. The lactose - free and medium -chain triglyceride - enriched formulas can rapidly correct the energy shortage of the hepatocyte and alleviate secondary galactosemia,hence improving the clinical presentations effectively in NICCD patients.
