Neonatal intrahepatic cholestasis caused by citrin deficiency: updated understanding

HUA Yuanyuan; LIU Huijuan; MIAO Jingkun; MA Qian; YU Jialin; LIU Jingying; LI Chun

doi:10.3969/j.issn.1000-3606.2016.12.016

Journal of Clinical Pediatrics >

2016 , Vol. 34 >Issue 12: 949

DOI: https://doi.org/10.3969/j.issn.1000-3606.2016.12.016

Neonatal intrahepatic cholestasis caused by citrin deficiency: updated understanding

HUA Yuanyuan ,
LIU Huijuan ,
MIAO Jingkun ,
MA Qian ,
YU Jialin ,
LIU Jingying ,
LI Chun

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Department of Neonates, Children’s Hospital of Chongqing Medical University, Chongqing 400014 , China

Received date: 2016-12-15

Online published: 2016-12-15

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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.

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HUA Yuanyuan , LIU Huijuan , MIAO Jingkun , MA Qian , YU Jialin , LIU Jingying , LI Chun . Neonatal intrahepatic cholestasis caused by citrin deficiency: updated understanding[J]. Journal of Clinical Pediatrics, 2016 , 34(12) : 949 . DOI: 10.3969/j.issn.1000-3606.2016.12.016

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