Neonatal intrahepatic cholestasis caused by Citrin deficiency
10.3760/cma.j.issn.2095-428X.2014.22.003
- VernacularTitle:Citrin缺陷导致的新生儿肝内胆汁淤积症
- Author:
Hui YU
;
Yanling GE
- Publication Type:Journal Article
- Keywords:
Neonatal intrahepatic cholestasis;
SLC25A13 gene;
Intrahepatic cholestasis;
Adult-onset type Ⅱ citrullinemia;
Citrin deficiency
- From:
Chinese Journal of Applied Clinical Pediatrics
2014;29(22):1686-1689
- CountryChina
- Language:Chinese
-
Abstract:
Neonatal intrahepatic cholestasis caused by Citrin deficiency(NICCD) is one of phenotypes of Citrin deficiency.It's an autosomal recessive disorder which was mainly seen in East Asia,including China.Case of NICCD was reported firstly by Japanese in 2001.In south area of China,the morbidity of NICCD is higher than that in north area of China.Most of the patients with NICCD has benign prognosis.Symptoms resolve within the first year of life,thus making a diagnosis difficult after this time.But few of patients will develop liver failure,even be fatal to life.Early diagnosis,regular follow-up and proper management may improve the prognosis.
