Abstract: Objective To investigate the clinical characteristics and gene mutation characteristics of infants with genetic metabolic intrahepatic cholestasis in Nanning. Methods A total of 116 infants with suspected genetic metabolic intrahepatic cholestasis in Nanning, who were treated in our hospital from January 2016 to December 2020, were collected as the research objects. The clinical data of all infants were collected. Target gene capture combined with high-throughput sequencing technology was used for gene detection, and Sanger was used for verification. Results (1) A total of 116 infants were included in this study, and there were 35 with gene mutation, including 11 of SLC25A13 gene mutation (31.43%), 8 of JAG1 gene mutation (22.86%), 7 of ABCB11 gene mutation (20.00%), 5 of HSD3B7 gene mutation (14.29%), 2 of CFTR gene mutation and 2 of AKR1D1 gene mutation (5.71%). (2) There were 11 of Citrin Protein deficiency (31.43%), 8 of Alagille syndrome (22.86%), 7 of progressive familial intrahepatic cholestasis of type 2 (20.00%), 4 of congenital bile acid synthesis disorder of type 1 (11.43%), 3 of congenital bile acid synthesis disorder of type 2 (8.57%), and 2 with cystic fibrosis (5.71%). (3) ALT level in infants of cholestasis with gene mutation was (244.85±70.64) U/L, which was significantly higher than those in infants of cholestasis without gene mutation (P<0.05), and there were no significant differences in gender, age of onset, age of treatment, weight, feeding pattern, yellow skin dyeing time, white earthen stool, AST, γ-GGT, ALP, TBA, TBil, TP, Alb, Glb, color Doppler ultrasound of liver, spleen and gallbladder (P>0.05). Conclusion The etiology of infants with intrahepatic cholestasis with gene mutation in Nanning is various and the clinical features are not significant. High throughput sequencing technology is of great value in the diagnosis of infants with intrahepatic cholestasis with suspected genetic metabolic diseases clinically.

Key words: Hereditary metabolic diseases, Cholestasis, Infants, High-throughput sequencing technology