Abstract
Objective: To investigate the clinical value of albumin (Alb) in the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Methods: A retrospective analysis was performed for the clinical data of 90 children with NICCD who visited Children's Hospital of Fudan University from January 2007 to December 2014, and according to the content of Alb, these children were divided into Alb < 30 g/L (LA) group with 20 children and Alb ≥30 g/L (NA) group with 70 children. The clinical manifestations, results of laboratory examination, results of blood tandem mass spectrometry and urine gas chromatography-mass spectrometry, and gene detection results were compared between the two groups. The t-test and the chi-square test were used for statistical analysis.. Results: There were significant differences between the LA group and the NA group in splenomegaly degree (3.28±1.95 cm vs 1.92±1.06 cm, P = 0.030), aspartate aminotransferase/alanine aminotransferase ratio [3.15 (0.38-5.93) vs 2.14 (0.26-6.67), P = 0.010], activated partial thromboplastin time (53.27±11.68 s vs 45.06±9.79 s, P = 0.003), and international normalized ratio (1.92±1.35 vs 1.29±0.33, P = 0.001). The SLC25A13 mutation I 851_854del4 was associated with Alb (χ(2) = 4.76, P = 0.025). Conclusion: As for the children with Alb < 30g/L who are highly suspected of having NICCD, SLC25A13 gene detection and blood/urine mass spectrometry should be performed as early as possible, in order to initiate intervention treatment as soon as possible, prevent and treat complications, and improve prognosis.