Caused By Citrin Deficiency Research Articles

Clinical research of neonatal intrahepatic cholestasis caused by Citrin deficiency in Hubei Province

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

99Tcm-EHIDA hepatobiliary imaging for neonatal intrahepatic cholestasis caused by citrin deficiency

Objective To evaluate the imaging characteristics of 99Tcm-EHIDA hepatobiliary scintigraphy in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).Methods 99Tcm-EHIDA hepatobiliary scan was performed on 12 NICCD infants (aged (127 ±27) d) and 5 infants as a control group (including 4 cases with hepatitis syndrome and 1 with abnormal lipid metabolism,aged (164 ± 15) d).The differences of hepatic activity retention time and bowel activity visualization time bctwccn the two groups were observed.The two-sample Wilcoxon rank sum test was used to analyze the data.Results In the NICCD group,both hepatic activity retention time and bowel activity visualization time were 180-1440 min (median =360 min).In the control group,hepatic activity retention time and bowel activity visualization time were 60-180 min (median =60 min) and 15-30 min (median =15 min),respectively.The differences of hepatic activity retention time and bowel activity visualization time between the two groups were statistically significant (Z =-3.20 and-3.17,both P ＜ 0.05).Three NICCD infants showed minimal hepatic uptake of the tracer.The bowel activity was not visible in 1 NICCD case.The hepatic uptake and biliary excretion function of this infant were significantly improved on hepatobiliary scintigraphy after treatment,with a bowel activity visualization time of 15 min.Conclusion NICCD infants show impaired hepatic uptake and biliary excretion function on 99Tcm-EHIDA hepatobiliary imaging,which may be used in NICCD diagnosis and treatment response evaluation. Key words: Cholestasis,intrahepatic; Infant,newborn; Radionuclide imaging; Technetium; EHIDA