Abstract
Objective To explore the clinical manifestations and the characteristics of neonatal intrahepatic cholestasis caused by Citrin deficiency(NICCD) in Hubei province. Methods The biochemical indicators including liver function, blood lipid, lactic acid, blood ammonia, total bile acid, alpha feto protein, coagulogram, blood amino spectrum, acylcrnitine spectrum, urine organic acid and SLC25A13 gene analysis of 20 cases with NICCD, who came from Wuhan Children's Hospital, during September 2010 to January 2013, were collected before treatment, then followed up for 1 year. Results Laboratory results of NICCD patients showed high blood bilirubin, elevated liver enzymes and bile acid, hyperlipidemia, high alpha feto protein, high lactic acidosis, high ammonia, hypoalbuminemia, hypoglycemia, disorder of blood coagulation mechanism, variety of amino acids increase, mainly citrulline rose.Mainly long-chain acyl carnitine increased among acyl of carnitine.Abnormal increase of urine 4-hydroxy benzene acetic acid, 4-hydroxy benzene lactic acid and 4-hydroxy benzene pyruvic acid.Six mutations were detected in SLC25A13 gene analysis, and L477R, G639S of them were novel mutations, 851del4, 1638ins23, IVS6+ 5G>A were hot mutation.All the patients were eased in jaundice before they were 1 year old. Conclusions The early clinical criterion of the patients is disorder.Hyperlipidemia has been detected in the early course of the disease, and L477R, G639S are the novel mutations. Key words: Citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; SLC25A13
Published Version
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