Abstract: Objective To explore the clinical characteristics and diagnosis of citrin deficiency with intrahepatic cholestasis (NICCD).Methods Thirty cases of citrin deficiency with NICCD children admitted to our hospital from July 2018 to July 2019 were selected as the case group, and 30 cases of normal newborns delivered in our hospital in the same period were selected as the normal group.The serum GGT, ALT, ALP and AST were compared between the two groups. The levels of TSH, FT4, IGF-1 and GH were measured at the same time.ROC was drawn to analyze the diagnostic value of liver function and endocrine index for citrin deficiency and NICCD.Results The serum GGT, ALT, ALP and AST contents of the case group were (460.38 ± 126.46) U/L, (254.49 ± 75.54) U/L, (424.59 ± 102.48) U/L, (301.93 ± 84.46) U/L, respectively Higher than the normal group (297.52 ± 89.38) U/L, (129.05 ± 33.56) U/L, (283.19 ± 56.52) U/L, (123.53 ± 62.38) U/L (all P<0.05).The case group serum IGF-1 [(34.65 ± 6.48) ng/mL] was significantly lower than the normal group [(164.36 ± 29.96) ng/mL](P<0.05).The case group GH [(18.35 ± 5.37) ng/mL] was significantly higher than the normal group [(2.01 ± 0.78) ng/mL] (P<0.05).The AUC of serum GGT, ALT, ALP, AST, IGF-1, and GH contents to diagnose Citrin deficiency with NICCD was 0.694, 0.764, 0.752, 0.782, 0.794, 0.791, respectively.Conclusion Compared with normal infants, citrin deficiency with NICCD infants have obvious liver function and endocrine abnormalities, among which serum GGT, alt, ALP, AST, IGF-1, GH can be used as an important index to diagnose the disease.

Key words: Intrahepatic cholestasis, Citrin defect, Liver function, Endocrine