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Eur J Pediatr Surg 2016; 26(03): 255-259
DOI: 10.1055/s-0035-1551566
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary Atresia

Zhenhua Gong
1   Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
,
Wei-Jue Xu
1   Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
,
Guo-Li Tian
2   Neonatal Screening Center, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
,
Ting Zhang
3   Department of Gastroenterology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
,
Zhibao Lv
1   Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
› Author Affiliations
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Publication History

13 November 2014

15 February 2015

Publication Date:
19 May 2015 (online)

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Abstract

Purpose The aim of this article is to differentiate neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) from biliary atresia (BA) by total hexose.

Methods A total of 11 patients with NICCD, 29 patients with BA, and 4,898 children as controls were involved in this study. The blood concentration of amino acids, carnitine, acylcarnitines, and total hexose were measured in dry blood spots (DBS) using tandem mass spectrometry (MS/MS).

Results In the patients with NICCD, the blood concentration of the total hexose (15.3 ± 9.0 mmol/L vs. 7.3 ± 2.7 mmol/L; p < 0.001), citrulline (Cit) (197.9 ± 93.7 µmol/L vs. 17.5 ± 7.4 µmol/L; p < 0.001) were higher than those of patients with BA. Using total hexose (> 10 mmol/L), Cit (> 55 µmol/L) to diagnose NICCD, the sensitivity and specificity were 66.7 and 97.8% and 90.0 and 99.1%, respectively, and all of the areas under the receiver–operating characteristic curves were greater than 0.85.

Conclusion Elevated total hexose in DBS measured by MS/MS associated with elevated amino acids, especially Cit can be used to diagnose NICCD and differentiate it from BA.

Keywords

biliary atresia - neonatal intrahepatic cholestasis caused by citrin deficiency - hexose - tandem mass spectrometry
 

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