Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary Atresia

Zhenhua Gong; Wei-Jue Xu; Guo-Li Tian; Ting Zhang; Zhibao Lv

doi:10.1055/s-0035-1551566

European Journal of Pediatric Surgery, Table of Contents

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

Authors

Zhenhua Gong

¹Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
Wei-Jue Xu

¹Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
Guo-Li Tian

²Neonatal Screening Center, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
Ting Zhang

³Department of Gastroenterology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
Zhibao Lv

¹Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China

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

Full Text

References

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